ClinVar

NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His)

Genes:

• PCDHA10:protocadherin alpha 10 [Gene - OMIM - HGNC]
• PCDHA11:protocadherin alpha 11 [Gene - OMIM - HGNC]
• PCDHA12:protocadherin alpha 12 [Gene - OMIM - HGNC]
• PCDHA13:protocadherin alpha 13 [Gene - OMIM - HGNC]
• PCDHA1:protocadherin alpha 1 [Gene - OMIM - HGNC]
• PCDHA2:protocadherin alpha 2 [Gene - OMIM - HGNC]
• PCDHA3:protocadherin alpha 3 [Gene - OMIM - HGNC]
• PCDHA4:protocadherin alpha 4 [Gene - OMIM - HGNC]
• PCDHA5:protocadherin alpha 5 [Gene - OMIM - HGNC]
• PCDHA6:protocadherin alpha 6 [Gene - OMIM - HGNC]
• PCDHA7:protocadherin alpha 7 [Gene - OMIM - HGNC]
• PCDHA8:protocadherin alpha 8 [Gene - OMIM - HGNC]
• PCDHA9:protocadherin alpha 9 [Gene - OMIM - HGNC]
• PCDHA@:protocadherin alpha cluster, complex locus [Gene - OMIM - HGNC]
• PCDHACT:protocadherin alpha constant [Gene - HGNC]
• PCDHAC1:protocadherin alpha subfamily C, 1 [Gene - OMIM - HGNC]
• PCDHAC2:protocadherin alpha subfamily C, 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140978974 (on Assembly GRCh38)
• Chr5: 140358559 (on Assembly GRCh37)

Preferred name:

NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His)

HGVS:

• NC_000005.10:g.140978974G>A
• NG_000016.2:g.244848G>A
• NG_050672.1:g.57258G>A
• NG_050674.1:g.128092G>A
• NG_050675.1:g.182777G>A
• NG_050677.1:g.189116G>A
• NM_018898.5:c.2459G>AMANE SELECT
• NM_018899.6:c.2591G>AMANE SELECT
• NM_018900.4:c.2420G>AMANE SELECT
• NM_018901.4:c.2414G>AMANE SELECT
• NM_018902.5:c.2417G>AMANE SELECT
• NM_018903.4:c.2393G>AMANE SELECT
• NM_018904.3:c.2420G>AMANE SELECT
• NM_018905.3:c.2414G>AMANE SELECT
• NM_018906.3:c.2420G>AMANE SELECT
• NM_018907.4:c.2411G>AMANE SELECT
• NM_018908.3:c.2378G>AMANE SELECT
• NM_018909.4:c.2420G>AMANE SELECT
• NM_018910.3:c.2381G>AMANE SELECT
• NM_018911.3:c.2420G>AMANE SELECT
• NM_031411.3:c.1628G>A
• NM_031849.3:c.1628G>A
• NM_031857.2:c.2420G>AMANE SELECT
• NM_031860.3:c.1625G>A
• NP_061721.2:p.Arg820His
• NP_061722.1:p.Arg864His
• NP_061723.1:p.Arg807His
• NP_061723.1:p.Arg807His
• NP_061724.1:p.Arg805His
• NP_061725.1:p.Arg806His
• NP_061726.1:p.Arg798His
• NP_061727.1:p.Arg807His
• NP_061728.1:p.Arg805His
• NP_061729.1:p.Arg807His
• NP_061730.1:p.Arg804His
• NP_061731.1:p.Arg793His
• NP_061732.1:p.Arg807His
• NP_061733.1:p.Arg794His
• NP_061734.1:p.Arg807His
• NP_113599.1:p.Arg543His
• NP_114037.1:p.Arg543His
• NP_114063.1:p.Arg807His
• NP_114066.1:p.Arg542His
• NC_000005.9:g.140358559G>A
• NM_018900.3:c.2420G>A

This HGVS expression did not pass validation

Protein change:

R542H

Links:

dbSNP: rs150254638

NCBI 1000 Genomes Browser:

rs150254638

Molecular consequence:

• NM_018898.5:c.2459G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018899.6:c.2591G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018900.4:c.2420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018901.4:c.2414G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018902.5:c.2417G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018903.4:c.2393G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018904.3:c.2420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018905.3:c.2414G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018906.3:c.2420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018907.4:c.2411G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018908.3:c.2378G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018909.4:c.2420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018910.3:c.2381G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018911.3:c.2420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031411.3:c.1628G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031849.3:c.1628G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031857.2:c.2420G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031860.3:c.1625G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting RNA [Variation Ontology: 0297]

Observations:

1