ClinVar

NM_001184880.2(PCDH19):c.889C>T (p.Leu297=)

Gene:

PCDH19:protocadherin 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 100407709 (on Assembly GRCh38)
• ChrX: 99662707 (on Assembly GRCh37)

Preferred name:

NM_001184880.2(PCDH19):c.889C>T (p.Leu297=)

HGVS:

• NC_000023.11:g.100407709G>A
• NG_021319.1:g.7565C>T
• NM_001105243.2:c.889C>T
• NM_001184880.2:c.889C>TMANE SELECT
• NM_020766.3:c.889C>T
• NP_001098713.1:p.Leu297=
• NP_001171809.1:p.Leu297=
• NP_065817.2:p.Leu297=
• LRG_843t1:c.889C>T
• LRG_843:g.7565C>T
• LRG_843p1:p.Leu297=
• NC_000023.10:g.99662707G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1489598292

NCBI 1000 Genomes Browser:

rs1489598292

Molecular consequence:

• NM_001105243.2:c.889C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001184880.2:c.889C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020766.3:c.889C>T - synonymous variant - [Sequence Ontology: SO:0001819]