NM_000169.3(GLA):c.979C>A (p.Gln327Lys) AND Fabry disease

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 1993
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:: RCV000011487.2

Allele description

NM_000169.3(GLA):c.979C>A (p.Gln327Lys)

Genes:

RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

Preferred name:

NM_000169.3(GLA):c.979C>A (p.Gln327Lys)

HGVS:

NC_000023.11:g.101398390G>T
NG_007119.1:g.14574C>A
NM_000169.3:c.979C>AMANE SELECT
NM_001199973.2:c.300+2933G>T
NM_001199974.2:c.177+6568G>T
NP_000160.1:p.Gln327Lys
LRG_672:g.14574C>A
NC_000023.10:g.100653378G>T
NR_164783.1:n.1058C>A
P06280:p.Gln327Lys

Protein change:

Q327K; GLN327LYS

Links:

UniProtKB: P06280#VAR_000484; OMIM: 300644.0027; dbSNP: rs28935491

NCBI 1000 Genomes Browser:

rs28935491

Molecular consequence:

NM_001199973.2:c.300+2933G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001199974.2:c.177+6568G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000169.3:c.979C>A - missense variant - [Sequence Ontology: SO:0001583]
NR_164783.1:n.1058C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Fabry disease
Synonyms:: Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010526; MedGen: C0002986; Orphanet: 324; OMIM: 301500; Human Phenotype Ontology: HP:0001071

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031719	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1993)	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

SCV000031719

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1993)

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

Mutation analysis in patients with the typical form of Anderson-Fabry disease.

Davies JP, Winchester BG, Malcolm S.

Hum Mol Genet. 1993 Jul;2(7):1051-3. No abstract available.

PubMed [citation]

PMID:: 8395937

Details of each submission

From OMIM, SCV000031719.1

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

Description

In an English patient with classic Fabry disease (301500), Davies et al. (1993) found a CAA-to-AAA mutation in exon 6 of the GLA gene, resulting in a gln327-to-lys (Q327K) substitution.

#	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 13, 2023

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