ClinVar

NM_015331.3(NCSTN):c.1479G>T (p.Val493=)

Gene:

NCSTN:nicastrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.2

Genomic location:

• Chr1: 160355886 (on Assembly GRCh38)
• Chr1: 160325676 (on Assembly GRCh37)

Preferred name:

NM_015331.3(NCSTN):c.1479G>T (p.Val493=)

HGVS:

• NC_000001.11:g.160355886G>T
• NG_027935.1:g.17614G>T
• NM_001290184.2:c.1419G>T
• NM_001290186.2:c.1065G>T
• NM_001349729.2:c.1479G>T
• NM_015331.3:c.1479G>TMANE SELECT
• NP_001277113.1:p.Val473=
• NP_001277115.1:p.Val355=
• NP_001336658.1:p.Val493=
• NP_056146.1:p.Val493=
• LRG_223t1:c.1479G>T
• LRG_223t2:c.1419G>T
• LRG_223:g.17614G>T
• LRG_223p1:p.Val493=
• LRG_223p2:p.Val473=
• NC_000001.10:g.160325676G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001290184.2:c.1419G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001290186.2:c.1065G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001349729.2:c.1479G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015331.3:c.1479G>T - synonymous variant - [Sequence Ontology: SO:0001819]