ClinVar

NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q12

Genomic location:

• Chr12: 42469464 (on Assembly GRCh38)
• Chr12: 42863266 (on Assembly GRCh37)

Preferred name:

NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr)

Other names:

p.A124T:GCT>ACT; NM_001144881.1(PRICKLE1):c.370G>A(p.Ala124Thr); NM_001144882.1(PRICKLE1):c.370G>A(p.Ala124Thr); NM_001144883.1(PRICKLE1):c.370G>A(p.Ala124Thr); NM_153026.2(PRICKLE1):c.370G>A(p.Ala124Thr)

HGVS:

• NC_000012.12:g.42469464C>T
• NG_012965.1:g.125307G>A
• NM_001144881.2:c.370G>A
• NM_001144882.2:c.370G>A
• NM_001144883.2:c.370G>A
• NM_153026.3:c.370G>AMANE SELECT
• NP_001138353.1:p.Ala124Thr
• NP_001138354.1:p.Ala124Thr
• NP_001138355.1:p.Ala124Thr
• NP_694571.2:p.Ala124Thr
• NC_000012.11:g.42863266C>T
• NM_001144881.1:c.370G>A
• NM_001144882.1:c.370G>A
• NM_153026.2:c.370G>A
• Q96MT3:p.Ala124Thr

This HGVS expression did not pass validation

Protein change:

A124T

Links:

UniProtKB: Q96MT3#VAR_066853; dbSNP: rs79087668

NCBI 1000 Genomes Browser:

rs79087668

Molecular consequence:

• NM_001144881.2:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144882.2:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144883.2:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_153026.3:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]