ClinVar

NM_002439.5(MSH3):c.143A>C (p.Asp48Ala)

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: 80654870 (on Assembly GRCh38)
• Chr5: 79950689 (on Assembly GRCh37)

Preferred name:

NM_002439.5(MSH3):c.143A>C (p.Asp48Ala)

HGVS:

• NC_000005.10:g.80654870A>C
• NG_016607.2:g.5396A>C
• NG_023304.1:g.5112T>G
• NG_105205.1:g.466A>C
• NG_105205.2:g.493A>C
• NM_000791.4:c.-381T>GMANE SELECT
• NM_001290354.2:c.-487T>G
• NM_001290357.2:c.-381T>G
• NM_002439.5:c.143A>CMANE SELECT
• NP_002430.3:p.Asp48Ala
• NC_000005.9:g.79950689A>C
• NM_002439.3:c.143A>C
• NM_002439.4:c.143A>C
• NR_110936.2:n.114T>G

This HGVS expression did not pass validation

Protein change:

D48A

Links:

dbSNP: rs773388641

NCBI 1000 Genomes Browser:

rs773388641

Molecular consequence:

• NM_000791.4:c.-381T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290354.2:c.-487T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001290357.2:c.-381T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002439.5:c.143A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_110936.2:n.114T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]