NM_001622.4(AHSG):c.214-903G>A AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 1, 2005
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:: RCV000017420.6

Allele description [Variation Report for NM_001622.4(AHSG):c.214-903G>A]

NM_001622.4(AHSG):c.214-903G>A

Gene:

AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.3

Genomic location:

Preferred name:

NM_001622.4(AHSG):c.214-903G>A

HGVS:

NC_000003.12:g.186614782G>A
NG_011436.1:g.6722G>A
NM_001354571.2:c.214-903G>A
NM_001354572.2:c.214-906G>A
NM_001354573.2:c.214-903G>A
NM_001622.4:c.214-903G>AMANE SELECT
NC_000003.11:g.186332571G>A

Nucleotide change:

1639A-G

Links:

OMIM: 138680.0003; dbSNP: rs2593813

NCBI 1000 Genomes Browser:

rs2593813

Molecular consequence:

NM_001354571.2:c.214-903G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354572.2:c.214-906G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001354573.2:c.214-903G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001622.4:c.214-903G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: Leanness, susceptibility to
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037692	OMIM	no assertion criteria provided	Benign (Jun 1, 2005)	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

SCV000037692

OMIM

no assertion criteria provided

Benign
(Jun 1, 2005)

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

AHSG gene variant is associated with leanness among Swedish men.

Lavebratt C, Wahlqvist S, Nordfors L, Hoffstedt J, Arner P.

Hum Genet. 2005 Jun;117(1):54-60. Epub 2005 Apr 2.

PubMed [citation]

PMID:: 15806395

Details of each submission

From OMIM, SCV000037692.5

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

Description

This variant, formerly titled LEANNESS, SUSCEPTIBILITY TO, has been reclassified as a polymorphism.

See 138680.0001 and Lavebratt et al. (2005).

#	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: Jun 9, 2024

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