ClinVar

NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)

Gene:

PCDH19:protocadherin 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 100407937 (on Assembly GRCh38)
• ChrX: 99662935 (on Assembly GRCh37)

Preferred name:

NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)

HGVS:

• NC_000023.11:g.100407937T>A
• NG_021319.1:g.7337A>T
• NM_001105243.2:c.661A>T
• NM_001184880.2:c.661A>TMANE SELECT
• NM_020766.3:c.661A>T
• NP_001098713.1:p.Thr221Ser
• NP_001171809.1:p.Thr221Ser
• NP_065817.2:p.Thr221Ser
• LRG_843t1:c.661A>T
• LRG_843:g.7337A>T
• LRG_843p1:p.Thr221Ser
• NC_000023.10:g.99662935T>A
• NM_001184880.1:c.661A>T

This HGVS expression did not pass validation

Protein change:

T221S

Molecular consequence:

• NM_001105243.2:c.661A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184880.2:c.661A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020766.3:c.661A>T - missense variant - [Sequence Ontology: SO:0001583]