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SIGLEC10 c.890C>T ;(p.S297L)
Variant ID: 19-51919286-G-A
NM_033130.4(
SIGLEC10
):c.890C>T;(p.S297L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28
Variant appearance in text: SIGLEC10: S297L
PubMed Link:
31253177
Variant Present in the following documents:
13073_2019_654_MOESM2_ESM.xlsx, sheet 63
View BVdb publication page
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12
Variant appearance in text: SIGLEC10: S297L; rs112483924
PubMed Link:
25887915
Variant Present in the following documents:
12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
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; Maciąg, 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: rs112483924
PubMed Link:
25469153
Variant Present in the following documents:
12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page