ClinVar

NM_152490.5(B3GALNT2):c.614T>C (p.Leu205Pro)

Gene:

B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.3

Genomic location:

• Chr1: 235480091 (on Assembly GRCh38)
• Chr1: 235643407 (on Assembly GRCh37)

Preferred name:

NM_152490.5(B3GALNT2):c.614T>C (p.Leu205Pro)

HGVS:

• NC_000001.11:g.235480091A>G
• NG_033219.2:g.29391T>C
• NM_001277155.3:c.737T>C
• NM_152490.5:c.614T>CMANE SELECT
• NP_001264084.1:p.Leu246Pro
• NP_689703.1:p.Leu205Pro
• NC_000001.10:g.235643407A>G
• NM_152490.2:c.614T>C

This HGVS expression did not pass validation

Protein change:

L205P

Links:

dbSNP: rs1553349873

NCBI 1000 Genomes Browser:

rs1553349873

Molecular consequence:

• NM_001277155.3:c.737T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_152490.5:c.614T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1