ClinVar

NM_000027.4(AGA):c.302C>T (p.Ala101Val)

Gene:

AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q34.3

Genomic location:

• Chr4: 177439668 (on Assembly GRCh38)
• Chr4: 178360822 (on Assembly GRCh37)

Preferred name:

NM_000027.4(AGA):c.302C>T (p.Ala101Val)

HGVS:

• NC_000004.12:g.177439668G>A
• NG_011845.2:g.7836C>T
• NM_000027.4:c.302C>TMANE SELECT
• NM_001171988.2:c.302C>T
• NP_000018.2:p.Ala101Val
• NP_001165459.1:p.Ala101Val
• NC_000004.11:g.178360822G>A
• NM_000027.3:c.302C>T
• NR_033655.2:n.364C>T
• P20933:p.Ala101Val

This HGVS expression did not pass validation

Protein change:

A101V; ALA101VAL

Links:

UniProtKB: P20933#VAR_005071; OMIM: 613228.0005; dbSNP: rs121964908

NCBI 1000 Genomes Browser:

rs121964908

Molecular consequence:

• NM_000027.4:c.302C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171988.2:c.302C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_033655.2:n.364C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1