R3HCC1 c.1193-220T>G

Variant ID: 8-23153260-T-G

NM_001136108.3(R3HCC1):c.1193-220T>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs1002791
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.

Bmc Medical Genetics
McGregor, Tracy L TL; Gurnett, Christina A CA; Dobbs, Matthew B MB; Wise, Carol A CA; Morcuende, Jose A JA; Morgan, Thomas M TM; Menon, Ramkumar R; Muglia, Louis J LJ
Publication Date: 2011-07-08

Variant appearance in text: rs1002791
PubMed Link: 21740577
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-92.pdf
View BVdb publication page



Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.

American Journal Of Human Genetics
Suarez, Brian K BK; Duan, Jubao J; Sanders, Alan R AR; Hinrichs, Anthony L AL; Jin, Carol H CH; Hou, Cuiping C; Buccola, Nancy G NG; Hale, Nancy N; Weilbaecher, Ann N AN; Nertney, Deborah A DA; Olincy, Ann A; Green, Susan S; Schaffer, Arthur W AW; Smith, Christopher J CJ; Hannah, Dominique E DE; Rice, John P JP; Cox, Nancy J NJ; Martinez, Maria M; Mowry, Bryan J BJ; Amin, Farooq F; Silverman, Jeremy M JM; Black, Donald W DW; Byerley, William F WF; Crowe, Raymond R RR; Freedman, Robert R; Cloninger, C Robert CR; Levinson, Douglas F DF; Gejman, Pablo V PV
Publication Date: 2006-02

Variant appearance in text: rs1002791
PubMed Link: 16400611
Variant Present in the following documents:
  • Main text
View BVdb publication page