ClinVar

NM_002439.5(MSH3):c.44G>A (p.Ser15Asn)

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: 80654771 (on Assembly GRCh38)
• Chr5: 79950590 (on Assembly GRCh37)

Preferred name:

NM_002439.5(MSH3):c.44G>A (p.Ser15Asn)

HGVS:

• NC_000005.10:g.80654771G>A
• NG_016607.2:g.5297G>A
• NG_023304.1:g.5211C>T
• NG_105205.2:g.394G>A
• NM_000791.4:c.-282C>TMANE SELECT
• NM_001290354.2:c.-388C>T
• NM_001290357.2:c.-282C>T
• NM_002439.5:c.44G>AMANE SELECT
• NP_002430.3:p.Ser15Asn
• NC_000005.9:g.79950590G>A
• NG_105205.1:g.367G>A
• NM_002439.4:c.44G>A
• NR_110936.2:n.213C>T

This HGVS expression did not pass validation

Protein change:

S15N

Molecular consequence:

• NM_000791.4:c.-282C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290354.2:c.-388C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290357.2:c.-282C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002439.5:c.44G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110936.2:n.213C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]