ClinVar

NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln)

Gene:

PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.1

Genomic location:

• Chr10: 53995731 (on Assembly GRCh38)
• Chr10: 55755491 (on Assembly GRCh37)

Preferred name:

NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln)

HGVS:

• NC_000010.11:g.53995731C>T
• NG_009191.3:g.1638452G>A
• NM_001142763.2:c.2801G>A
• NM_001142764.2:c.2786G>A
• NM_001142765.2:c.2573G>A
• NM_001142766.2:c.2786G>A
• NM_001142767.2:c.2675G>A
• NM_001142768.2:c.2720G>A
• NM_001142769.3:c.2822G>A
• NM_001142770.3:c.2786G>A
• NM_001142771.2:c.2801G>A
• NM_001142772.2:c.2786G>A
• NM_001142773.2:c.2720G>A
• NM_001354404.2:c.2720G>A
• NM_001354411.2:c.2807G>A
• NM_001354420.2:c.2786G>A
• NM_001354429.2:c.2786G>A
• NM_001354430.2:c.2786G>A
• NM_001384140.1:c.2786G>AMANE SELECT
• NM_033056.4:c.2786G>A
• NP_001136235.1:p.Arg934Gln
• NP_001136236.1:p.Arg929Gln
• NP_001136237.1:p.Arg858Gln
• NP_001136238.1:p.Arg929Gln
• NP_001136239.1:p.Arg892Gln
• NP_001136240.1:p.Arg907Gln
• NP_001136241.1:p.Arg941Gln
• NP_001136242.1:p.Arg929Gln
• NP_001136243.1:p.Arg934Gln
• NP_001136244.1:p.Arg929Gln
• NP_001136245.1:p.Arg907Gln
• NP_001341333.1:p.Arg907Gln
• NP_001341340.1:p.Arg936Gln
• NP_001341349.1:p.Arg929Gln
• NP_001341358.1:p.Arg929Gln
• NP_001341359.1:p.Arg929Gln
• NP_001371069.1:p.Arg929Gln
• NP_149045.3:p.Arg929Gln
• NC_000010.10:g.55755491C>T
• NM_033056.3:c.2786G>A
• Q96QU1:p.Arg929Gln
• c.2786G>A

This HGVS expression did not pass validation

Protein change:

R858Q

Links:

UniProtKB: Q96QU1#VAR_028292; dbSNP: rs2135720

NCBI 1000 Genomes Browser:

rs2135720

Molecular consequence:

• NM_001142763.2:c.2801G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142764.2:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142765.2:c.2573G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142766.2:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142767.2:c.2675G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142768.2:c.2720G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142769.3:c.2822G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142770.3:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142771.2:c.2801G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142772.2:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142773.2:c.2720G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354404.2:c.2720G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354411.2:c.2807G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354420.2:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354429.2:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354430.2:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384140.1:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_033056.4:c.2786G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

858