ClinVar

NM_001184880.2(PCDH19):c.564C>A (p.Ala188=)

Gene:

PCDH19:protocadherin 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 100408034 (on Assembly GRCh38)
• ChrX: 99663032 (on Assembly GRCh37)

Preferred name:

NM_001184880.2(PCDH19):c.564C>A (p.Ala188=)

HGVS:

• NC_000023.11:g.100408034G>T
• NG_021319.1:g.7240C>A
• NM_001105243.2:c.564C>A
• NM_001184880.2:c.564C>AMANE SELECT
• NM_020766.3:c.564C>A
• NP_001098713.1:p.Ala188=
• NP_001171809.1:p.Ala188=
• NP_065817.2:p.Ala188=
• LRG_843t1:c.564C>A
• LRG_843:g.7240C>A
• LRG_843p1:p.Ala188=
• NC_000023.10:g.99663032G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1602637704

NCBI 1000 Genomes Browser:

rs1602637704

Molecular consequence:

• NM_001105243.2:c.564C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001184880.2:c.564C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020766.3:c.564C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1