Full data view for gene ARHGEF6

Information The variants shown are described using the NM_004840.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.362G>A r.(?) p.(Arg121His) Unknown - likely benign g.135827479C>T g.136745320C>T ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.362G>A r.(?) p.(Arg121His) Unknown - benign g.135827479C>T g.136745320C>T ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.362G>A r.(?) p.(Arg121His) Unknown - likely benign g.135827479C>T g.136745320C>T ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.362G>A r.(?) p.(Arg121His) Parent #1 - VUS g.135827479C>T g.136745320C>T - - ARHGEF6_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.362G>A r.(?) p.(Arg121His) Unknown - likely benign g.135827479C>T - ARHGEF6(NM_004840.2):c.362G>A (p.R121H, p.(Arg121His)) - ARHGEF6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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