ClinVar

NM_013382.7(POMT2):c.1701C>G (p.Pro567=)

Gene:

POMT2:protein O-mannosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 77280416 (on Assembly GRCh38)
• Chr14: 77746759 (on Assembly GRCh37)

Preferred name:

NM_013382.7(POMT2):c.1701C>G (p.Pro567=)

HGVS:

• NC_000014.9:g.77280416G>C
• NG_008897.1:g.45467C>G
• NM_013382.5:c.1701C>G
• NM_013382.7:c.1701C>GMANE SELECT
• NP_037514.2:p.Pro567=
• NP_037514.2:p.Pro567=
• LRG_844t1:c.1701C>G
• LRG_844:g.45467C>G
• LRG_844p1:p.Pro567=
• NC_000014.8:g.77746759G>C
• p.Pro567Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs151051452

NCBI 1000 Genomes Browser:

rs151051452

Molecular consequence:

• NM_013382.5:c.1701C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013382.7:c.1701C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

8