U.S. flag

An official website of the United States government

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:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037692OMIM
no assertion criteria provided
Benign
(Jun 1, 2005) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024