chr11:5247902:C>T Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,902-5,247,902
hg38 chr11:5,226,672-5,226,672 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn
Ensemble ENST00000335295.4:c.220G>A ENST00000335295.4:p.Asp74Asn
ENST00000485743.1:c.220G>A ENST00000485743.1:p.Asp74Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
other 2017-12-12 no assertion criteria provided germline Detail
other 2017-12-12 no assertion criteria provided germline Detail
Conflicting interpretations of pathogenicity 2023-11-27 criteria provided, conflicting interpretations not provided germline unknown Detail
Likely benign 2020-08-07 criteria provided, single submitter not specified germline Detail
Likely benign 2021-01-22 no assertion criteria provided beta thalassemia germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000518.4(HBB):c.[20A>T;220G>A] AND HEMOGLOBIN ZIGUINCHOR ClinVar Detail
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND HEMOGLOBIN KORLE-BU ClinVar Detail
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND not provided ClinVar Detail
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND not specified ClinVar Detail
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) AND beta Thalassemia ClinVar 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
rs334 dbSNP
Genome
hg19
Position
chr11:5,247,902-5,247,902
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121394
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.237639422047218E-6
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