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NM_000044.6(AR):c.639G>A (p.Glu213=) AND Androgen resistance syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 10, 2014
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:
RCV000143829.2

Allele description [Variation Report for NM_000044.6(AR):c.639G>A (p.Glu213=)]

NM_000044.6(AR):c.639G>A (p.Glu213=)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.639G>A (p.Glu213=)
HGVS:
  • NC_000023.11:g.67545785G>A
  • NG_009014.2:g.6754G>A
  • NM_000044.6:c.639G>AMANE SELECT
  • NM_001011645.3:c.-1145G>A
  • NM_001348061.1:c.639G>A
  • NM_001348063.1:c.639G>A
  • NM_001348064.1:c.639G>A
  • NP_000035.2:p.=
  • NP_000035.2:p.Glu213=
  • NP_001334990.1:p.Glu213=
  • NP_001334992.1:p.Glu213=
  • NP_001334993.1:p.Glu213=
  • LRG_1406t1:c.639G>A
  • LRG_1406:g.6754G>A
  • LRG_1406p1:p.Glu213=
  • NC_000023.10:g.66765627G>A
  • NM_000044.2:c.639G>A
  • NM_000044.3:c.639G>A
Links:
dbSNP: rs6152
NCBI 1000 Genomes Browser:
rs6152
Molecular consequence:
  • NM_001011645.3:c.-1145G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000044.6:c.639G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001348061.1:c.639G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001348063.1:c.639G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001348064.1:c.639G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Androgen resistance syndrome (AIS)
Synonyms:
TESTICULAR FEMINIZATION SYNDROME; Androgen insensitivity syndrome; Androgen receptor deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019154; MedGen: C0039585; Orphanet: 99429; OMIM: 300068

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188724GeneReviews
no assertion criteria provided
Benign
(Jul 10, 2014) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular characterization of the androgen receptor gene in boys with hypospadias.

Hiort O, Klauber G, Cendron M, Sinnecker GH, Keim L, Schwinger E, Wolfe HJ, Yandell DW.

Eur J Pediatr. 1994 May;153(5):317-21.

PubMed [citation]
PMID:
8033918

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

Batch JA, Williams DM, Davies HR, Brown BD, Evans BA, Hughes IA, Patterson MN.

Hum Mol Genet. 1992 Oct;1(7):497-503.

PubMed [citation]
PMID:
1307250
See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000188724.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 10, 2024