ZFX c.465T>A ;(p.H155Q)

Variant ID: X-24197706-T-A

NM_003410.3(ZFX):c.465T>A;(p.H155Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.

Andrology
Malcher, Agnieszka A; Stokowy, Tomasz T; Berman, Andrea A; Olszewska, Marta M; Jedrzejczak, Piotr P; Sielski, Dawid D; Nowakowski, Adam A; Rozwadowska, Natalia N; Yatsenko, Alexander N AN; Kurpisz, Maciej K MK
Publication Date: 2022-11

Variant appearance in text: ZFX: 465T>A; His155Gln; rs149552647
PubMed Link: 36017582
Variant Present in the following documents:
  • Main text
  • ANDR-10-1605.pdf
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; MaciÄ…g, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: ZFX: H155Q; rs149552647
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: ZFX: H155Q
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page