ClinVar

NM_013382.7(POMT2):c.672del (p.Trp225fs)

Genes:

LOC130056175:ATAC-STARR-seq lymphoblastoid silent region 5968 [Gene]
POMT2:protein O-mannosyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q24.3

Genomic location:

• Chr14: 77301234 (on Assembly GRCh38)
• Chr14: 77767577 (on Assembly GRCh37)

Preferred name:

NM_013382.7(POMT2):c.672del (p.Trp225fs)

HGVS:

• NC_000014.9:g.77301238del
• NG_008897.1:g.24649del
• NM_013382.7:c.672delMANE SELECT
• NP_037514.2:p.Trp225fs
• LRG_844:g.24649del
• NC_000014.8:g.77767577del
• NC_000014.8:g.77767581del

This HGVS expression did not pass validation

Protein change:

W225fs

Links:

dbSNP: rs1566656247

NCBI 1000 Genomes Browser:

rs1566656247

Molecular consequence:

• NM_013382.7:c.672del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

1