AMH c.571C>T ;(p.R191*)

Variant ID: 19-2250666-C-T

NM_000479.3(AMH):c.571C>T;(p.R191*)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: AMH: 571C>T; Arg191Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page


Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Asian Journal Of Andrology
Tian, Hong-Juan HJ; Wu, De-Hua DH; Ru, Wei W; Wu, Ding-Wen DW; Tao, Chang C; Chen, Guang-Jie GJ; Yuan, Jin-Na JN; Fu, Jun-Fen JF; Tang, Da-Xing DX
Publication Date: 2021-11-19

Variant appearance in text: AMH: 571C>T; Arg191*
PubMed Link: 34810374
Variant Present in the following documents:
  • Main text
View BVdb publication page


Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Asian Journal Of Andrology
Tian, Hong-Juan HJ; Wu, De-Hua DH; Ru, Wei W; Wu, Ding-Wen DW; Tao, Chang C; Chen, Guang-Jie GJ; Yuan, Jin-Na JN; Fu, Jun-Fen JF; Tang, Da-Xing DX
Publication Date: 2022

Variant appearance in text: AMH: 571C>T; Arg191*
PubMed Link: 34810374
Variant Present in the following documents:
  • Main text
View BVdb publication page


The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: AMH: 571C>T; Arg191Ter; rs104894666
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page


The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: AMH: 571C>T; Arg191Ter; rs104894666
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
View BVdb publication page