ClinVar

NM_002439.5(MSH3):c.115T>A (p.Ser39Thr)

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: 80654842 (on Assembly GRCh38)
• Chr5: 79950661 (on Assembly GRCh37)

Preferred name:

NM_002439.5(MSH3):c.115T>A (p.Ser39Thr)

HGVS:

• NC_000005.10:g.80654842T>A
• NG_016607.2:g.5368T>A
• NG_023304.1:g.5140A>T
• NG_105205.1:g.438T>A
• NG_105205.2:g.465T>A
• NM_000791.4:c.-353A>TMANE SELECT
• NM_001290354.2:c.-459A>T
• NM_001290357.2:c.-353A>T
• NM_002439.5:c.115T>AMANE SELECT
• NP_002430.3:p.Ser39Thr
• NC_000005.9:g.79950661T>A
• NM_002439.3:c.115T>A
• NM_002439.4:c.115T>A
• NR_110936.2:n.142A>T

This HGVS expression did not pass validation

Protein change:

S39T

Links:

dbSNP: rs1580538013

NCBI 1000 Genomes Browser:

rs1580538013

Molecular consequence:

• NM_000791.4:c.-353A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290354.2:c.-459A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290357.2:c.-353A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002439.5:c.115T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110936.2:n.142A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]