chr19:35284999:G>A Detail (hg38) (HAMP)

Information

Genome

Assembly Position
hg19 chr19:35,775,902-35,775,902 View the variant detail on this assembly version.
hg38 chr19:35,284,999-35,284,999

HGVS

Type Transcript Protein
RefSeq NM_021175.3:c.212G>A NP_066998.1:p.Gly71Asp
Ensemble ENST00000222304.5:c.212G>A ENST00000222304.5:p.Gly71Asp
ENST00000598398.5:c.212G>A ENST00000598398.5:p.Gly71Asp
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 Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606464 OMIM
HGNC 15598 HGNC
Ensembl ENSG00000105697 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv405443750 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2003-09-01 no assertion criteria provided Hemochromatosis, type 2a, modifier of germline Detail
Likely benign 2017-09-15 criteria provided, single submitter not specified germline Detail
Benign 2019-05-28 criteria provided, single submitter hemochromatosis type 1 unknown Detail
Likely benign 2024-01-31 criteria provided, single submitter Hereditary hemochromatosis germline Detail
Likely benign 2017-04-27 criteria provided, single submitter hemochromatosis type 2B germline Detail
Likely benign 2023-06-09 criteria provided, single submitter HAMP-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Anemia, Sickle Cell We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mut... BeFree 25117103 Detail
0.170 Iron Overload Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SC... BeFree 25117103 Detail
<0.001 Anemia, Sickle Cell We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mut... BeFree 25117103 Detail
0.170 Iron Overload Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SC... BeFree 25117103 Detail
0.360 HEMOCHROMATOSIS, TYPE 2B HAMP as a modifier gene that increases the phenotypic expression of the HFE pC28... UNIPROT 14670915 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) AND Hemochromatosis, type 2a, modifier of ClinVar Detail
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) AND not specified ClinVar Detail
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) AND Hemochromatosis type 1 ClinVar Detail
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) AND Hereditary hemochromatosis ClinVar Detail
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) AND Hemochromatosis type 2B ClinVar Detail
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) AND HAMP-related disorder ClinVar Detail
We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gen... DisGeNET Detail
Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SCD patients; neither ... DisGeNET Detail
We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gen... DisGeNET Detail
Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SCD patients; neither ... DisGeNET Detail
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genoty... 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
rs104894696 dbSNP
Genome
hg38
Position
chr19:35,284,999-35,284,999
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121402
Allele Counts in All Race (ExAC)
246
Heterozygous Counts in All Race (ExAC)
246
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.00202632576069587
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