ClinVar

NM_015331.3(NCSTN):c.95G>T (p.Arg32Met)

Gene:

NCSTN:nicastrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.2

Genomic location:

• Chr1: 160344731 (on Assembly GRCh38)
• Chr1: 160314521 (on Assembly GRCh37)

Preferred name:

NM_015331.3(NCSTN):c.95G>T (p.Arg32Met)

HGVS:

• NC_000001.11:g.160344731G>T
• NG_027935.1:g.6459G>T
• NG_050927.1:g.3834C>A
• NM_001290184.2:c.35G>T
• NM_001290186.2:c.95G>T
• NM_001349729.2:c.95G>T
• NM_015331.3:c.95G>TMANE SELECT
• NP_001277113.1:p.Arg12Met
• NP_001277115.1:p.Arg32Met
• NP_001336658.1:p.Arg32Met
• NP_056146.1:p.Arg32Met
• LRG_223t1:c.95G>T
• LRG_223t2:c.35G>T
• LRG_1336:g.3834C>A
• LRG_223:g.6459G>T
• LRG_223p1:p.Arg32Met
• LRG_223p2:p.Arg12Met
• NC_000001.10:g.160314521G>T

This HGVS expression did not pass validation

Protein change:

R12M

Links:

dbSNP: rs1205203955

NCBI 1000 Genomes Browser:

rs1205203955

Molecular consequence:

• NM_001290184.2:c.35G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290186.2:c.95G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001349729.2:c.95G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015331.3:c.95G>T - missense variant - [Sequence Ontology: SO:0001583]