ClinVar

NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile)

Genes:

POMGNT1:protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Gene - OMIM - HGNC]
TSPAN1:tetraspanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 46192223 (on Assembly GRCh38)
• Chr1: 46657895 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile)

HGVS:

• NC_000001.11:g.46192223G>T
• NG_009205.3:g.33083C>A
• NM_001243766.2:c.1414C>A
• NM_001290129.2:c.1348C>A
• NM_001290130.2:c.985C>A
• NM_017739.4:c.1414C>AMANE SELECT
• NP_001230695.2:p.Leu472Ile
• NP_001277058.2:p.Leu450Ile
• NP_001277059.2:p.Leu329Ile
• NP_060209.4:p.Leu472Ile
• LRG_701t1:c.1414C>A
• LRG_701t2:c.1414C>A
• LRG_701:g.33083C>A
• LRG_701p1:p.Leu472Ile
• LRG_701p2:p.Leu472Ile
• NC_000001.10:g.46657895G>T
• NG_009205.2:g.33083C>A
• NM_017739.3:c.1414C>A

This HGVS expression did not pass validation

Protein change:

L329I

Links:

dbSNP: rs1253221637

NCBI 1000 Genomes Browser:

rs1253221637

Molecular consequence:

• NM_001243766.2:c.1414C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290129.2:c.1348C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290130.2:c.985C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017739.4:c.1414C>A - missense variant - [Sequence Ontology: SO:0001583]