ClinVar

NM_000027.4(AGA):c.515T>C (p.Ile172Thr)

Gene:

AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q34.3

Genomic location:

• Chr4: 177437512 (on Assembly GRCh38)
• Chr4: 178358666 (on Assembly GRCh37)

Preferred name:

NM_000027.4(AGA):c.515T>C (p.Ile172Thr)

HGVS:

• NC_000004.12:g.177437512A>G
• NG_011845.2:g.9992T>C
• NM_000027.4:c.515T>CMANE SELECT
• NM_001171988.2:c.515T>C
• NP_000018.2:p.Ile172Thr
• NP_001165459.1:p.Ile172Thr
• NC_000004.11:g.178358666A>G
• NM_000027.3:c.515T>C
• NR_033655.2:n.577T>C

This HGVS expression did not pass validation

Protein change:

I172T

Links:

dbSNP: rs745924498

NCBI 1000 Genomes Browser:

rs745924498

Molecular consequence:

• NM_000027.4:c.515T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171988.2:c.515T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_033655.2:n.577T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]