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Table 1 AR gene variant identified in a Chinese family with AIS

From: Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant

Gene

AR

DNA change

c.2263T> C/g.172945T> C

Amino acid alteration

p.Phe755Leu

Variant type

Missense

Allele Frequency

 

1KGP

0

ExAc_all

0

GnomAD

0

Function prediction

 

Mutation Taster

Disease causing (1.000)

Polyphen-2

Possibly damaging (0.836)

SIFT

Damaging (0.003)

CADD

Damaging (24.3)

  1. NCBI accession number of AR is NM_000044.3; NP number of AR protein: NP_000035.2; Genome reference assembly: GRCh37/ hg19; AIS: androgen insensitivity syndrome; 1KGP: 1000 Genomes Project; ExAc_all: all the data of Exome Aggregation Consortium; GnomAD: Genome Aggregation Database
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BMC Medical Genomics

ISSN: 1755-8794

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