All variants in the ARHGEF6 gene

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     

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     

Owner     
-?/. - c.362G>A r.(?) p.(Arg121His) - 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 - VKGL-NL_Groningen
-/. - c.362G>A r.(?) p.(Arg121His) - 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 - VKGL-NL_Utrecht
-?/. - c.362G>A r.(?) p.(Arg121His) - 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 - VKGL-NL_Leiden
?/. - c.362G>A r.(?) p.(Arg121His) - VUS g.135827479C>T g.136745320C>T - - ARHGEF6_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.362G>A r.(?) p.(Arg121His) - 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 - - - - - VKGL-NL_AMC
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