ClinVar

NM_003774.5(GALNT4):c.353A>T (p.Asp118Val)

Genes:

POC1B:POC1 centriolar protein B [Gene - OMIM - HGNC]
POC1B-GALNT4:POC1B-GALNT4 readthrough [Gene - HGNC]
GALNT4:polypeptide N-acetylgalactosaminyltransferase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.33

Genomic location:

• Chr12: 89524197 (on Assembly GRCh38)
• Chr12: 89917974 (on Assembly GRCh37)

Preferred name:

NM_003774.5(GALNT4):c.353A>T (p.Asp118Val)

HGVS:

• NC_000012.12:g.89524197T>A
• NG_041783.1:g.7066A>T
• NG_050753.1:g.5610A>T
• NG_054725.1:g.7066A>T
• NM_001199777.2:c.-27+923A>T
• NM_001199781.2:c.344A>T
• NM_001199782.1:c.361-524A>T
• NM_003774.5:c.353A>TMANE SELECT
• NM_172240.3:c.100+923A>TMANE SELECT
• NP_001186710.1:p.Asp115Val
• NP_003765.2:p.Asp118Val
• NC_000012.11:g.89917974T>A
• NM_003774.4:c.353A>T

This HGVS expression did not pass validation

Protein change:

D115V

Molecular consequence:

• NM_001199777.2:c.-27+923A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199782.1:c.361-524A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_172240.3:c.100+923A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199781.2:c.344A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003774.5:c.353A>T - missense variant - [Sequence Ontology: SO:0001583]