ClinVar

NM_017739.4(POMGNT1):c.99G>T (p.Arg33=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

• Chr1: 46197723 (on Assembly GRCh38)
• Chr1: 46663395 (on Assembly GRCh37)

Preferred name:

NM_017739.4(POMGNT1):c.99G>T (p.Arg33=)

HGVS:

• NC_000001.11:g.46197723C>A
• NG_009205.3:g.27583G>T
• NM_001243766.2:c.99G>T
• NM_017739.4:c.99G>TMANE SELECT
• NP_001230695.2:p.Arg33=
• NP_060209.4:p.Arg33=
• LRG_701t1:c.99G>T
• LRG_701t2:c.99G>T
• LRG_701:g.27583G>T
• LRG_701p1:p.Arg33=
• LRG_701p2:p.Arg33=
• NC_000001.10:g.46663395C>A
• NG_009205.2:g.27583G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs767852518

NCBI 1000 Genomes Browser:

rs767852518

Molecular consequence:

• NM_001243766.2:c.99G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017739.4:c.99G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1