ClinVar

NM_007171.3(POMT1):c.42C>T (p.Asp14=)

Gene:

POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 131504260 (on Assembly GRCh38)
• Chr9: 134379647 (on Assembly GRCh37)

Preferred name:

NM_007171.3(POMT1):c.42C>T (p.Asp14=)

HGVS:

• NC_000009.12:g.131504260C>T
• NG_008896.1:g.6359C>T
• NM_001077366.1:c.-41+1187C>T
• NM_007171.3:c.42C>T
• NP_009102.3:p.Asp14=
• NC_000009.11:g.134379647C>T
• p.Asp14Asp

This HGVS expression did not pass validation

Links:

dbSNP: rs150937126

GMAF:

0.0002(T), 150937126

NCBI 1000 Genomes Browser:

rs150937126

Molecular consequence:

• NM_001077366.1:c.-41+1187C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007171.3:c.42C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1