NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala). Gene: PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC]; Variant type: single nucleotide ...

Jun 18, 2022 · NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala). Gene: PMS2:PMS1 homolog 2, mismatch repair system component [Gene - OMIM - HGNC] ...

List of variants in gene PMS2 reported as benign for Hereditary cancer-predisposing syndrome ; NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala), rs1802683, 0.30966.

2570G>C (p.Gly857Ala), rs1802683, 0.30966. NM_000535.7(PMS2):c.538-223A>G ... Glu10=) rs876660608. NM_000535.7(PMS2):c.353G>T (p.Ser118Ile), rs1394474494.

Two probands carrying both an LRP6 mutant allele and a WNT10A variant exhibited more severe phenotypes, suggesting mutational synergism or digenic inheritance.

Gene Variant Detail ; Variant, G857A ; Transcript, NM_000535.7 ; gDNA, chr7:g.5973418C>G ; cDNA, c.2570G>C ; Protein, p.G857A.

Transcript Alleles ; ENST00000700202.2:c.10103G>A, ENSP00000514856.2:p.Arg3368His ; ENST00000700202.1:c.2570G>A, ENSP00000514856.1:p.Arg857His ; ENST00000700203.1: ...

Associated Genes · Clinvar Clinical Significance · CTGA Clinical Significance · Variant Type · dbSNP · Clinvar.

5:c.2570G>A, ENSP00000397593.2:p.Arg857His. ENST00000577647.2:c.848G>A, ENSP00000464149.1:p.Arg283His. ENST00000578839.5:c.*519+270G>A, ENSP00000462110.2:n.*519 ...

5):c.2570G>C). Individual ID, 00000312. Chromosome, 7. Allele, Unknown. Affects function (as reported), Does not affect function. Affects function (by curator) ...