ClinVar

NM_000027.4(AGA):c.346C>T (p.Arg116Trp)

Gene:

AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q34.3

Genomic location:

• Chr4: 177439624 (on Assembly GRCh38)
• Chr4: 178360778 (on Assembly GRCh37)

Preferred name:

NM_000027.4(AGA):c.346C>T (p.Arg116Trp)

HGVS:

• NC_000004.12:g.177439624G>A
• NG_011845.2:g.7880C>T
• NM_000027.4:c.346C>TMANE SELECT
• NM_001171988.2:c.346C>T
• NP_000018.2:p.Arg116Trp
• NP_001165459.1:p.Arg116Trp
• NC_000004.11:g.178360778G>A
• NM_000027.3:c.346C>T
• NR_033655.2:n.408C>T

This HGVS expression did not pass validation

Protein change:

R116W

Links:

dbSNP: rs386833423

NCBI 1000 Genomes Browser:

rs386833423

Molecular consequence:

• NM_000027.4:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171988.2:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_033655.2:n.408C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

3