Unique variants in the CHRFAM7A gene

Information The variants shown are described using the NM_148911.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
./. 1 - c.-2236790_55+36del r.? p.? - pathogenic g.30665145_32921879del - - - ARHGAP11A_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 1 - c.-2236790_*270292del r.? p.? - pathogenic g.30384204_32921879del - - - ARHGAP11A_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.56-1G>A r.spl? p.? - VUS g.30664545C>T g.30372342C>T CHRFAM7A(NM_139320.1):c.329-1G>A (p.?) - CHRFAM7A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.140G>A r.(?) p.(Arg47His) - VUS g.30664460C>T - CHRFAM7A(NM_139320.1):c.413G>A (p.R138H) - CHRFAM7A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.200C>T r.(?) p.(Ala67Val) - likely benign g.30664400G>A g.30372197G>A CHRFAM7A(NM_139320.1):c.473C>T (p.A158V) - CHRFAM7A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.668G>A r.(?) p.(Gly223Glu) - VUS g.30654794C>T - CHRFAM7A(NM_139320.1):c.941G>A (p.G314E) - CHRFAM7A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.758C>T r.(?) p.(Ala253Val) - likely benign g.30654704G>A g.30362501G>A CHRFAM7A(NM_139320.1):c.1031C>T (p.A344V) - CHRFAM7A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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