ClinVar

NM_018403.7(DCP1A):c.992T>A (p.Val331Asp)

Gene:

DCP1A:decapping mRNA 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

• Chr3: 53292460 (on Assembly GRCh38)
• Chr3: 53326490 (on Assembly GRCh37)

Preferred name:

NM_018403.7(DCP1A):c.992T>A (p.Val331Asp)

HGVS:

• NC_000003.12:g.53292460A>T
• NM_001290204.2:c.878T>A
• NM_001290205.2:c.776T>A
• NM_001290206.2:c.629T>A
• NM_001290207.2:c.515T>A
• NM_018403.7:c.992T>AMANE SELECT
• NP_001277133.1:p.Val293Asp
• NP_001277134.1:p.Val259Asp
• NP_001277135.1:p.Val210Asp
• NP_001277136.1:p.Val172Asp
• NP_060873.4:p.Val331Asp
• NC_000003.11:g.53326490A>T
• NM_018403.5:c.992T>A

This HGVS expression did not pass validation

Protein change:

V172D

Molecular consequence:

• NM_001290204.2:c.878T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290205.2:c.776T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290206.2:c.629T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290207.2:c.515T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018403.7:c.992T>A - missense variant - [Sequence Ontology: SO:0001583]