View unique variants - The Globin Gene Server - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the HBG1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HBG1 full legend here.

56 entries
entries per page

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

HbVar link


1	HBG1:c.-114C>G (Reported 2 times)	-	-	-	-	HBG1_01966	-
1	HBG1:c.-167C>T	-	-	-	-	HBG1_00662	HbVar
1	HBG1:c.-167_-155delCAATAGCCTTGAC	-	-	-	-	HBG1_00663	HbVar
1	HBG1:c.-170G>A (Reported 2 times)	-	-	-	-	HBG1_00660	HbVar
1	HBG1:c.-211C>T	-	-	-	-	HBG1_00667	HbVar
1	HBG1:c.-228T>C	-	-	-	-	HBG1_00659	HbVar
1	HBG1:c.-248C>G	-	-	-	-	HBG1_00658	HbVar
1	HBG1:c.-249C>T	-	-	-	-	HBG1_00657	HbVar
1	HBG1:c.-250C>T	-	-	-	-	HBG1_01651	HbVar
1	HBG1:c.-251T>C	-	-	-	-	HBG1_00656	HbVar
1	HBG1:c.-255C>T	-	-	-	-	HBG1_00655	HbVar
1	HBG1:c.-264C>T	-	-	-	-	HBG1_00668	HbVar
1	HBG1:c.16G>A	-	p.Glu6Lys	-	-	HBG1_00626	HbVar
1	HBG1:c.19G>A	-	p.Glu7Lys	-	-	HBG1_00646	HbVar
1	HBG1:c.19G>C	-	p.Glu7Gln	-	-	HBG1_00628	HbVar
1	HBG1:c.20A>G	-	p.Glu7Gly	-	-	HBG1_00627	HbVar
1	HBG1:c.38C>A	-	p.Thr13Lys	-	-	HBG1_00647	HbVar
1	HBG1:c.38C>G	-	p.Thr13Arg	-	-	HBG1_00629	HbVar
1	HBG1:c.50G>A (Reported 2 times)	-	p.Gly17Asp	-	-	HBG1_01990	-
1	HBG1:c.67G>A	-	p.Asp23Asn	-	-	HBG1_01590	HbVar
1	HBG1:c.68A>G	-	p.Asp23Gly	-	-	HBG1_00630	HbVar
1	HBG1:c.70_72delGCT	-	-	-	-	HBG1_00649	HbVar
1	HBG1:c.76G>C	-	p.Gly26Arg	-	-	HBG1_00650	HbVar
1	HBG1:c.89G>A (Reported 2 times)	-	p.Gly30Glu	-	-	HBG1_01991	-
1	HBG1:c.9T>G	-	p.His3Gln	-	-	HBG1_00625	HbVar
2	HBG1:c.110C>G	-	p.Pro37Arg	-	-	HBG1_00631	HbVar
2	HBG1:c.112T>G	-	p.Trp38Gly	-	-	HBG1_00632	HbVar
2	HBG1:c.119A>G	-	p.Gln40Arg	-	-	HBG1_00633	HbVar
2	HBG1:c.122G>A	-	p.Arg41Lys	-	-	HBG1_00634	HbVar
2	HBG1:c.130G>A	-	p.Asp44Asn	-	-	HBG1_00651	HbVar
2	HBG1:c.161C>A	-	p.Ala54Asp	-	-	HBG1_00635	HbVar
2	HBG1:c.184A>G	-	p.Lys62Glu	-	-	HBG1_00636	HbVar
2	HBG1:c.217G>C	-	p.Gly73Arg	-	-	HBG1_00637	HbVar
2	HBG1:c.220G>A	-	p.Asp74Asn	-	-	HBG1_00652	HbVar
2	HBG1:c.220G>C	-	p.Asp74His	-	-	HBG1_00638	HbVar
2	HBG1:c.238G>A	-	p.Asp80Asn	-	-	HBG1_00640	HbVar
2	HBG1:c.241G>A	-	p.Asp81Asn	-	-	HBG1_00653	HbVar
2	HBG1:c.241G>T	-	p.Asp81Tyr	-	-	HBG1_00641	HbVar
2	HBG1:c.275T>G	-	p.Leu92Arg	-	-	HBG1_01774	HbVar
2	HBG1:c.293A>G	-	p.His98Arg	-	-	HBG1_00642	HbVar
2	HBG1:c.304G>A	-	p.Glu102Lys	-	-	HBG1_02177	-
2-3	HBG1:c.[241G>A ;410C>G]	-	p.Ala137Gly	-	-	HBG1_02067	-
2	U01317.1(HBG1):c.227T>C	-	p.Ile76Thr	-	-	HBG1_00639	HbVar
3	HBG1:c.327T>A	-	p.Asn109Lys	-	-	HBG1_00648	HbVar
3	HBG1:c.340G>A (Reported 2 times)	-	p.Val114Ile	-	-	HBG1_02032	-
3	HBG1:c.358G>A	-	p.Gly120Ser	-	-	HBG1_01714	HbVar
3	HBG1:c.364G>A (Reported 2 times)	-	p.Glu122Lys	-	-	HBG1_00643	HbVar
3	HBG1:c.364G>C	-	p.Glu122Gln	-	-	HBG1_00664	HbVar
3	HBG1:c.365A>T	-	p.Glu122Val	-	-	HBG1_01727	HbVar
3	HBG1:c.377A>C (Reported 2 times)	-	p.Glu126Ala	-	-	HBG1_01780	HbVar
3	HBG1:c.385G>A	-	p.Ala129Thr	-	-	HBG1_00644	HbVar
3	HBG1:c.396G>T	-	p.Gln132His	-	-	HBG1_01589	HbVar
3	HBG1:c.403G>A	-	p.Val135Met	-	-	HBG1_00645	HbVar
3	HBG1:c.409G>T	-	p.Ala137Ser	-	-	HBG1_00666	HbVar
3	HBG1:c.410C>G	-	p.Ala137Gly	-	-	HBG1_00665	HbVar
3	HBG1:c.420T>G	-	p.Ser140Arg	-	-	HBG1_02178	-

1 - 56

Click here to save this list in a tab-delimited text file.

Legend: [ HBG1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. HBG1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link

The Globin Gene Server

A-gamma globin (HBG1)