ClinVar

NM_153026.3(PRICKLE1):c.384+6C>A

Gene:

PRICKLE1:prickle planar cell polarity protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q12

Genomic location:

• Chr12: 42469444 (on Assembly GRCh38)
• Chr12: 42863246 (on Assembly GRCh37)

Preferred name:

NM_153026.3(PRICKLE1):c.384+6C>A

HGVS:

• NC_000012.12:g.42469444G>T
• NG_012965.1:g.125327C>A
• NM_001144881.2:c.384+6C>A
• NM_001144882.2:c.384+6C>A
• NM_001144883.2:c.384+6C>A
• NM_153026.3:c.384+6C>AMANE SELECT
• NC_000012.11:g.42863246G>T
• NC_000012.11:g.42863246G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs764025084

NCBI 1000 Genomes Browser:

rs764025084

Molecular consequence:

• NM_001144881.2:c.384+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144882.2:c.384+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144883.2:c.384+6C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_153026.3:c.384+6C>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1