chr11:5247906:>T Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,906-5,247,906
hg38 chr11:5,226,676-5,226,676 

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.215_216insA NP_000509.1:p.Ser73LysfsTer2
Ensemble ENST00000335295.4:c.215_216insA ENST00000335295.4:p.Ser73LysfsTer2
ENST00000485743.1:c.215_216insA ENST00000485743.1:p.Ser73LysfsTer2
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 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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1984-05-01 no assertion criteria provided Beta zero thalassemia germline Detail
Pathogenic 2024-01-04 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2019-12-20 criteria provided, multiple submitters, no conflicts beta thalassemia germline unknown Detail
Pathogenic 2016-09-02 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000518.5(HBB):c.217dup (p.Ser73fs) AND Beta zero thalassemia ClinVar Detail
NM_000518.5(HBB):c.217dup (p.Ser73fs) AND not provided ClinVar Detail
NM_000518.5(HBB):c.217dup (p.Ser73fs) AND beta Thalassemia ClinVar Detail
NM_000518.5(HBB):c.217dup (p.Ser73fs) AND Inborn genetic diseases 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
rs33969853 dbSNP
Genome
hg19
Position
chr11:5,247,906-5,247,906
Variant Type
snv
Reference Allele
-
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1574074074074075E-4
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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