ClinVar

NM_002439.5(MSH3):c.190C>T (p.Pro64Ser)

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: 80654917 (on Assembly GRCh38)
• Chr5: 79950736 (on Assembly GRCh37)

Preferred name:

NM_002439.5(MSH3):c.190C>T (p.Pro64Ser)

HGVS:

• NC_000005.10:g.80654917C>T
• NG_016607.2:g.5443C>T
• NG_023304.1:g.5065G>A
• NG_105205.1:g.513C>T
• NG_105205.2:g.540C>T
• NM_000791.4:c.-428G>AMANE SELECT
• NM_001290354.2:c.-534G>A
• NM_001290357.2:c.-428G>A
• NM_002439.5:c.190C>TMANE SELECT
• NP_002430.3:p.Pro64Ser
• NC_000005.9:g.79950736C>T
• NM_002439.4:c.190C>T
• NR_110936.2:n.67G>A

This HGVS expression did not pass validation

Protein change:

P64S

Molecular consequence:

• NM_000791.4:c.-428G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290354.2:c.-534G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290357.2:c.-428G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002439.5:c.190C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_110936.2:n.67G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]