ClinVar

NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)

Gene:

GNPTAB:N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 101770109 (on Assembly GRCh38)
• Chr12: 102163887 (on Assembly GRCh37)

Preferred name:

NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)

HGVS:

• NC_000012.12:g.101770109G>A
• NG_021243.1:g.65759C>T
• NM_024312.5:c.1196C>TMANE SELECT
• NP_077288.2:p.Ser399Phe
• NC_000012.11:g.102163887G>A
• NM_024312.4:c.1196C>T
• Q3T906:p.Ser399Phe

This HGVS expression did not pass validation

Nucleotide change:

AY687932:c.1196C>T

Protein change:

S399F

Links:

UniProtKB: Q3T906#VAR_062808; dbSNP: rs281865026

NCBI 1000 Genomes Browser:

rs281865026

Molecular consequence:

• NM_024312.5:c.1196C>T - missense variant - [Sequence Ontology: SO:0001583]