ClinVar

NM_016341.4(PLCE1):c.5168-1G>A

Gene:

PLCE1:phospholipase C epsilon 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

• Chr10: 94298378 (on Assembly GRCh38)
• Chr10: 96058135 (on Assembly GRCh37)

Preferred name:

NM_016341.4(PLCE1):c.5168-1G>A

HGVS:

• NC_000010.11:g.94298378G>A
• NG_015799.1:g.309390G>A
• NG_015799.2:g.309449G>A
• NM_001165979.2:c.4244-1G>A
• NM_001288989.2:c.5120-1G>A
• NM_016341.4:c.5168-1G>AMANE SELECT
• NC_000010.10:g.96058135G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs941409069

NCBI 1000 Genomes Browser:

rs941409069

Molecular consequence:

• NM_001165979.2:c.4244-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001288989.2:c.5120-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_016341.4:c.5168-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]