chr11:5226952:C>T Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,182-5,248,182 View the variant detail on this assembly version.
hg38 chr11:5,226,952-5,226,952

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile
Ensemble ENST00000335295.4:c.70G>A ENST00000335295.4:p.Val24Ile
ENST00000485743.1:c.70G>A ENST00000485743.1:p.Val24Ile
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 1997-06-01 no assertion criteria provided HEMOGLOBIN S (ANTILLES) germline Detail
Pathogenic 2018-01-01 no assertion criteria provided hemoglobinopathy 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_000518.4(HBB):c.[20A>T;70G>A] AND HEMOGLOBIN S (ANTILLES) ClinVar Detail
NM_000518.5(HBB):c.70G>A (p.Val24Ile) AND Hemoglobinopathy 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
rs33929459 dbSNP
Genome
hg38
Position
chr11:5,226,952-5,226,952
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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