ClinVar

NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)

Gene:

PSEN2:presenilin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q42.13

Genomic location:

• Chr1: 226883774 (on Assembly GRCh38)
• Chr1: 227071475 (on Assembly GRCh37)

Preferred name:

NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)

HGVS:

• NC_000001.11:g.226883774C>T
• NG_007381.2:g.18591C>T
• NM_000447.3:c.211C>TMANE SELECT
• NM_012486.3:c.211C>T
• NP_000438.2:p.Arg71Trp
• NP_036618.2:p.Arg71Trp
• LRG_225t1:c.211C>T
• LRG_225:g.18591C>T
• LRG_225p1:p.Arg71Trp
• NC_000001.10:g.227071475C>T
• NG_007381.1:g.18203C>T
• NM_000447.2:c.211C>T
• P49810:p.Arg71Trp

This HGVS expression did not pass validation

Protein change:

R71W

Links:

UniProtKB: P49810#VAR_070027; dbSNP: rs140501902

NCBI 1000 Genomes Browser:

rs140501902

Molecular consequence:

• NM_000447.3:c.211C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012486.3:c.211C>T - missense variant - [Sequence Ontology: SO:0001583]