ClinVar

NM_000021.4(PSEN1):c.*3889G>A

Gene:

PSEN1:presenilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 73223178 (on Assembly GRCh38)
• Chr14: 73689886 (on Assembly GRCh37)

Preferred name:

NM_000021.4(PSEN1):c.*3889G>A

HGVS:

• NC_000014.9:g.73223178G>A
• NG_007386.2:g.91708G>A
• NM_000021.4:c.*3889G>AMANE SELECT
• NM_007318.3:c.*3889G>A
• LRG_224t1:c.*3889G>A
• LRG_224:g.91708G>A
• NC_000014.8:g.73689886G>A
• NM_000021.3:c.*3889G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs17125952

NCBI 1000 Genomes Browser:

rs17125952

Molecular consequence:

• NM_000021.4:c.*3889G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_007318.3:c.*3889G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]