ClinVar

NM_002439.5(MSH3):c.38C>A (p.Ala13Asp)

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: 80654765 (on Assembly GRCh38)
• Chr5: 79950584 (on Assembly GRCh37)

Preferred name:

NM_002439.5(MSH3):c.38C>A (p.Ala13Asp)

HGVS:

• NC_000005.10:g.80654765C>A
• NG_016607.2:g.5291C>A
• NG_023304.1:g.5217G>T
• NG_105205.1:g.361C>A
• NG_105205.2:g.388C>A
• NM_000791.4:c.-276G>TMANE SELECT
• NM_001290354.2:c.-382G>T
• NM_001290357.2:c.-276G>T
• NM_002439.5:c.38C>AMANE SELECT
• NP_002430.3:p.Ala13Asp
• NC_000005.9:g.79950584C>A
• NM_002439.3:c.38C>A
• NR_110936.2:n.219G>T

This HGVS expression did not pass validation

Protein change:

A13D

Links:

dbSNP: rs756843242

NCBI 1000 Genomes Browser:

rs756843242

Molecular consequence:

• NM_000791.4:c.-276G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290354.2:c.-382G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290357.2:c.-276G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002439.5:c.38C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_110936.2:n.219G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]