chr11:5226930:C>T Detail (hg38) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,160-5,248,160 View the variant detail on this assembly version.
hg38 chr11:5,226,930-5,226,930

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.92G>A NP_000509.1:p.Arg31Lys
Ensemble ENST00000335295.4:c.92G>A ENST00000335295.4:p.Arg31Lys
ENST00000485743.1:c.92G>A ENST00000485743.1:p.Arg31Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM5893554 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2017-01-26 criteria provided, multiple submitters, no conflicts beta thalassemia germline unknown Detail
Pathogenic Likely pathogenic 2023-07-18 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.672 beta thalassemia NA CLINVAR Detail
0.120 beta thalassemia major anemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) AND not provided ClinVar Detail
NA DisGeNET 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
rs33960103 dbSNP
Genome
hg38
Position
chr11:5,226,930-5,226,930
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser