chr11:5247913:C>T Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,913-5,247,913
hg38 chr11:5,226,683-5,226,683 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.209G>A NP_000509.1:p.Gly70Asp
Ensemble ENST00000647020.1:c.209G>A ENST00000647020.1:p.Gly70Asp
ENST00000335295.4:c.209G>A ENST00000335295.4:p.Gly70Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
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 2000-05-01 no assertion criteria provided not specified germline Detail
Likely benign 2022-01-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 Cooley's anemia β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C... BeFree 24986053 Detail
0.127 beta^0^ Thalassemia β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C... BeFree 24986053 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) AND not specified ClinVar Detail
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) AND not provided ClinVar Detail
β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as ... DisGeNET Detail
β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as ... 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
rs34718174 dbSNP
Genome
hg19
Position
chr11:5,247,913-5,247,913
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser