ClinVar

NM_031857.2(PCDHA9):c.1550T>A (p.Val517Glu)

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]
• 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]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140850045 (on Assembly GRCh38)
• Chr5: 140229630 (on Assembly GRCh37)

Preferred name:

NM_031857.2(PCDHA9):c.1550T>A (p.Val517Glu)

HGVS:

• NC_000005.10:g.140850045T>A
• NG_000016.2:g.115918T>A
• NG_050675.1:g.53848T>A
• NG_050677.1:g.60187T>A
• NM_014005.4:c.1550T>A
• NM_018900.4:c.2394+61361T>AMANE SELECT
• NM_018905.3:c.2388+52693T>AMANE SELECT
• NM_018906.3:c.2394+46454T>AMANE SELECT
• NM_018907.4:c.2385+40473T>AMANE SELECT
• NM_018908.3:c.2352+25918T>AMANE SELECT
• NM_018909.4:c.2394+19560T>AMANE SELECT
• NM_018910.3:c.2355+13307T>AMANE SELECT
• NM_018911.3:c.2394+6330T>AMANE SELECT
• NM_031411.3:c.1602+62153T>A
• NM_031849.3:c.1602+20352T>A
• NM_031857.2:c.1550T>AMANE SELECT
• NP_054724.1:p.Val517Glu
• NP_114063.1:p.Val517Glu
• NC_000005.9:g.140229630T>A
• NM_031857.1:c.1550T>A

This HGVS expression did not pass validation

Protein change:

V517E

Molecular consequence:

• NM_018900.4:c.2394+61361T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018905.3:c.2388+52693T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018906.3:c.2394+46454T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018907.4:c.2385+40473T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018908.3:c.2352+25918T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018909.4:c.2394+19560T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018910.3:c.2355+13307T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_018911.3:c.2394+6330T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_031411.3:c.1602+62153T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_031849.3:c.1602+20352T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_014005.4:c.1550T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031857.2:c.1550T>A - missense variant - [Sequence Ontology: SO:0001583]