ClinVar

NM_000021.4(PSEN1):c.1129+151T>C

Gene:

PSEN1:presenilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 73212093 (on Assembly GRCh38)
• Chr14: 73678801 (on Assembly GRCh37)

Preferred name:

NM_000021.4(PSEN1):c.1129+151T>C

HGVS:

• NC_000014.9:g.73212093T>C
• NG_007386.2:g.80623T>C
• NM_000021.4:c.1129+151T>CMANE SELECT
• NM_007318.3:c.1117+151T>C
• LRG_224t1:c.1129+151T>C
• LRG_224:g.80623T>C
• NC_000014.8:g.73678801T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs867230071

NCBI 1000 Genomes Browser:

rs867230071

Molecular consequence:

• NM_000021.4:c.1129+151T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_007318.3:c.1117+151T>C - intron variant - [Sequence Ontology: SO:0001627]