chr11:5248249:C> Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,249-5,248,249
hg38 chr11:5,227,019-5,227,019 

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.3delG NP_000509.1:p.Val2CysfsTer3
Ensemble ENST00000647020.1:c.3delG ENST00000647020.1:p.Val2CysfsTer3
ENST00000485743.1:c.3delG ENST00000485743.1:p.Val2CysfsTer3
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 141900 OMIM
HGNC 4827 HGNC
Ensembl ENSG00000244734 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1992-02-01 no assertion criteria provided Beta zero thalassemia germline Detail
Pathogenic 2019-11-25 no assertion criteria provided beta thalassemia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.127 beta^0^ Thalassemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.4del (p.Val2fs) AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.4del (p.Val2fs) AND beta Thalassemia ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs63750475 dbSNP
Genome
hg19
Position
chr11:5,248,249-5,248,249
Variant Type
snv
Reference Allele
C
Alternative Allele
-
Genome browser