ClinVar

NM_002439.5(MSH3):c.196C>G (p.Pro66Ala)

Genes:

DHFR:dihydrofolate reductase [Gene - OMIM - HGNC]
MSH3:mutS homolog 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

• Chr5: 80654923 (on Assembly GRCh38)
• Chr5: 79950742 (on Assembly GRCh37)

Preferred name:

NM_002439.5(MSH3):c.196C>G (p.Pro66Ala)

HGVS:

• NC_000005.10:g.80654923C>G
• NG_016607.2:g.5449C>G
• NG_023304.1:g.5059G>C
• NG_105205.1:g.519C>G
• NG_105205.2:g.546C>G
• NM_000791.4:c.-434G>CMANE SELECT
• NM_001290354.2:c.-540G>C
• NM_001290357.2:c.-434G>C
• NM_002439.5:c.196C>GMANE SELECT
• NP_002430.3:p.Pro66Ala
• NC_000005.9:g.79950742C>G
• NM_002439.4:c.196C>G
• NR_110936.2:n.61G>C

This HGVS expression did not pass validation

Protein change:

P66A

Links:

dbSNP: rs767295239

NCBI 1000 Genomes Browser:

rs767295239

Molecular consequence:

• NM_000791.4:c.-434G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290354.2:c.-540G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290357.2:c.-434G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002439.5:c.196C>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_110936.2:n.61G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]