ClinVar

NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)

Gene:

PSEN2:presenilin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.13

Genomic location:

• Chr1: 226894110 (on Assembly GRCh38)
• Chr1: 227081811 (on Assembly GRCh37)

Preferred name:

NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)

HGVS:

• NC_000001.11:g.226894110C>T
• NG_007381.2:g.28927C>T
• NG_012825.2:g.1575C>T
• NM_000447.3:c.1176C>TMANE SELECT
• NM_012486.3:c.1173C>T
• NP_000438.2:p.Phe392=
• NP_036618.2:p.Phe391=
• LRG_225t1:c.1176C>T
• LRG_1092:g.1575C>T
• LRG_225:g.28927C>T
• LRG_225p1:p.Phe392=
• NC_000001.10:g.227081811C>T
• NG_007381.1:g.28539C>T
• NM_000447.2:c.1176C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs115652716

NCBI 1000 Genomes Browser:

rs115652716

Molecular consequence:

• NM_000447.3:c.1176C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012486.3:c.1173C>T - synonymous variant - [Sequence Ontology: SO:0001819]