chr11:5248205:C>T Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,205-5,248,205
hg38 chr11:5,226,975-5,226,975 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.47G>A NP_000509.1:p.Trp16Ter
Ensemble ENST00000485743.1:c.47G>A ENST00000485743.1:p.Trp16Ter
ENST00000335295.4:c.47G>A ENST00000335295.4:p.Trp16Ter
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 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 1992-04-01 no assertion criteria provided Beta zero thalassemia germline Detail
Pathogenic 2024-01-22 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-11-03 criteria provided, multiple submitters, no conflicts beta thalassemia germline unknown Detail
Pathogenic criteria provided, single submitter Hb SS disease germline Detail
Pathogenic criteria provided, single submitter Beta-thalassemia HBB/LCRB 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.47G>A (p.Trp16Ter) AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) AND not provided ClinVar Detail
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) AND Hb SS disease ClinVar Detail
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) AND Beta-thalassemia HBB/LCRB 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
rs63750783 dbSNP
Genome
hg19
Position
chr11:5,248,205-5,248,205
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8622
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)
121364
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1535545960910979E-4
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