NM_021175.3(HAMP):c.212G>A (p.Gly71Asp) AND Hemochromatosis, type 2a, modifier of

This record was updated by the submitter. Please see the current version.

Germline classification:: risk factor (1 submission)
Last evaluated:: Sep 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000004507.3

Allele description

NM_021175.3(HAMP):c.212G>A (p.Gly71Asp)

Gene:

HAMP:hepcidin antimicrobial peptide [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.12

Genomic location:

Preferred name:

NM_021175.3(HAMP):c.212G>A (p.Gly71Asp)

HGVS:

NC_000019.10:g.35284999G>A
NG_011563.1:g.7493G>A
NM_021175.3:c.212G>A
NP_066998.1:p.Gly71Asp
NC_000019.9:g.35775902G>A
NM_021175.2:c.212G>A

Protein change:

G71D; GLY71ASP

Links:

OMIM: 606464.0004; dbSNP: rs104894696

GMAF:

0.0004(A), 104894696

NCBI 1000 Genomes Browser:

rs104894696

Allele Frequency:

0.002, GO-ESP

Molecular consequence:

NM_021175.3:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hemochromatosis, type 2a, modifier of
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024681	OMIM	no assertion criteria provided	risk factor (Sep 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024681

OMIM

no assertion criteria provided

risk factor
(Sep 1, 2003)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

Merryweather-Clarke AT, Cadet E, Bomford A, Capron D, Viprakasit V, Miller A, McHugh PJ, Chapman RW, Pointon JJ, Wimhurst VL, Livesey KJ, Tanphaichitr V, Rochette J, Robson KJ.

Hum Mol Genet. 2003 Sep 1;12(17):2241-7. Epub 2003 Jul 15.

PubMed [citation]

PMID:: 12915468

Details of each submission

From OMIM, SCV000024681.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Merryweather-Clarke et al. (2003) reported a 2-generation family with juvenile hemochromatosis (602390) in which the proband and his sister were homozygous for a C282Y mutation in HFE (253200.0001) and heterozygous for a gly71-to-asp (G71D) mutation in the HAMP gene. The father was heterozygous for both HFE C282Y and HAMP G71D. There was a correlation between severity of iron overload, heterozygosity for HAMP G71D, and heterozygosity or homozygosity for the HFE C282Y mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 29, 2016

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