ClinVar

NM_152713.5(STT3A):c.149+318dup

Gene:

STT3A:STT3 oligosaccharyltransferase complex catalytic subunit A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q24.2

Genomic location:

• Chr11: 125597421 - 125597422 (on Assembly GRCh38)
• Chr11: 125467316 - 125467317 (on Assembly GRCh37)

Preferred name:

NM_152713.5(STT3A):c.149+318dup

HGVS:

• NC_000011.10:g.125597437dup
• NG_042806.1:g.9643dup
• NM_001278503.2:c.149+318dup
• NM_001278504.2:c.-128+318dup
• NM_152713.5:c.149+318dupMANE SELECT
• NC_000011.9:g.125467332dup

This HGVS expression did not pass validation

Links:

dbSNP: rs58836204

NCBI 1000 Genomes Browser:

rs58836204

Molecular consequence:

• NM_001278503.2:c.149+318dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_001278504.2:c.-128+318dup - intron variant - [Sequence Ontology: SO:0001627]
• NM_152713.5:c.149+318dup - intron variant - [Sequence Ontology: SO:0001627]