ClinVar

NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)

Genes:

PRICKLE2-AS1:PRICKLE2 antisense RNA 1 [Gene - HGNC]
PRICKLE2:prickle planar cell polarity protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.1

Genomic location:

• Chr3: 64099773 (on Assembly GRCh38)
• Chr3: 64085449 (on Assembly GRCh37)

Preferred name:

NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)

HGVS:

• NC_000003.12:g.64099773C>A
• NG_031930.1:g.130683G>T
• NM_001370528.1:c.1813G>T
• NM_198859.4:c.1813G>TMANE SELECT
• NP_001357457.1:p.Val605Phe
• NP_942559.1:p.Val605Phe
• NC_000003.11:g.64085449C>A
• NM_198859.3:c.1813G>T
• NR_045697.1:n.3147C>A
• Q7Z3G6:p.Val605Phe

This HGVS expression did not pass validation

Protein change:

V605F; VAL605PHE

Links:

UniProtKB: Q7Z3G6#VAR_065584; OMIM: 608501.0002; dbSNP: rs387906989

NCBI 1000 Genomes Browser:

rs387906989

Molecular consequence:

• NM_001370528.1:c.1813G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_198859.4:c.1813G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045697.1:n.3147C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]