chr1:145415419:T>C Detail (hg19) (HJV)

Information

Genome

Assembly Position
hg19 chr1:145,415,419-145,415,419
hg38 chr1:146,019,593-146,019,593 

HGVS

Type Transcript Protein
RefSeq NM_213652.3:c.-21-894T>C
NM_001316767.1:c.238T>C NP_001303696.1:p.Cys80Arg
NM_213653.3:c.238T>C NP_998818.1:p.Cys80Arg
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 608374 OMIM
HGNC 4887 HGNC
Ensembl ENSG00000168509 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6527752 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-10-01 no assertion criteria provided hemochromatosis type 2A germline Detail
Pathogenic 2023-12-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_213653.4(HJV):c.238T>C (p.Cys80Arg) AND Hemochromatosis type 2A ClinVar Detail
NM_213653.4(HJV):c.238T>C (p.Cys80Arg) AND not provided 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
rs28940586 dbSNP
Genome
hg19
Position
chr1:145,415,419-145,415,419
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8458
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)
117614
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)
8.502389171357152E-6
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