ClinVar

NM_000021.4(PSEN1):c.313T>A (p.Phe105Ile)

Gene:

PSEN1:presenilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 73171022 (on Assembly GRCh38)
• Chr14: 73637730 (on Assembly GRCh37)

Preferred name:

NM_000021.4(PSEN1):c.313T>A (p.Phe105Ile)

HGVS:

• NC_000014.9:g.73171022T>A
• NG_007386.2:g.39552T>A
• NM_000021.4:c.313T>AMANE SELECT
• NM_007318.3:c.301T>A
• NP_000012.1:p.Phe105Ile
• NP_015557.2:p.Phe101Ile
• LRG_224t1:c.313T>A
• LRG_224:g.39552T>A
• LRG_224p1:p.Phe105Ile
• NC_000014.8:g.73637730T>A

This HGVS expression did not pass validation

Protein change:

F101I

Links:

dbSNP: rs63750325

NCBI 1000 Genomes Browser:

rs63750325

Molecular consequence:

• NM_000021.4:c.313T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007318.3:c.301T>A - missense variant - [Sequence Ontology: SO:0001583]