All variants in the ARHGEF6 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.891G>T r.(?) p.(Gln297His) - benign g.135790866C>A g.136708707C>A ARHGEF6(NM_004840.2):c.891G>T (p.(Gln297His)) - ARHGEF6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.891G>T r.(?) p.(Gln297His) - likely benign g.135790866C>A g.136708707C>A - - ARHGEF6_000034 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5974620 Germline - 1/2788 individuals - 0 - Mohammed Faruq
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