ClinVar

NM_002439.5(MSH3):c.4T>A (p.Ser2Thr)

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: 80654731 (on Assembly GRCh38)
• Chr5: 79950550 (on Assembly GRCh37)

Preferred name:

NM_002439.5(MSH3):c.4T>A (p.Ser2Thr)

HGVS:

• NC_000005.10:g.80654731T>A
• NG_016607.2:g.5257T>A
• NG_023304.1:g.5251A>T
• NG_105205.2:g.354T>A
• NM_000791.4:c.-242A>TMANE SELECT
• NM_001290354.2:c.-348A>T
• NM_001290357.2:c.-242A>T
• NM_002439.5:c.4T>AMANE SELECT
• NP_002430.3:p.Ser2Thr
• NC_000005.9:g.79950550T>A
• NG_105205.1:g.327T>A
• NR_110936.2:n.253A>T

This HGVS expression did not pass validation

Protein change:

S2T

Molecular consequence:

• NM_000791.4:c.-242A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290354.2:c.-348A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290357.2:c.-242A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002439.5:c.4T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110936.2:n.253A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]