ClinVar

NM_018907.4(PCDHA4):c.946T>C (p.Tyr316His)

Genes:

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]
PCDHA@:protocadherin alpha cluster, complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140808133 (on Assembly GRCh38)
• Chr5: 140187718 (on Assembly GRCh37)

Preferred name:

NM_018907.4(PCDHA4):c.946T>C (p.Tyr316His)

HGVS:

• NC_000005.10:g.140808133T>C
• NG_000016.2:g.74006T>C
• NG_050675.1:g.11936T>C
• NG_050677.1:g.18275T>C
• NM_018900.4:c.2394+19449T>CMANE SELECT
• NM_018905.3:c.2388+10781T>CMANE SELECT
• NM_018906.3:c.2394+4542T>CMANE SELECT
• NM_018907.4:c.946T>CMANE SELECT
• NM_031411.3:c.1602+20241T>C
• NM_031500.3:c.946T>C
• NP_061730.1:p.Tyr316His
• NP_113688.1:p.Tyr316His
• NC_000005.9:g.140187718T>C
• NM_018907.2:c.946T>C

This HGVS expression did not pass validation

Protein change:

Y316H

Molecular consequence:

• NM_018900.4:c.2394+19449T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_018905.3:c.2388+10781T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_018906.3:c.2394+4542T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_031411.3:c.1602+20241T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_018907.4:c.946T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_031500.3:c.946T>C - missense variant - [Sequence Ontology: SO:0001583]