ClinVar

NM_032968.5(PCDH11X):c.1656C>G (p.Ser552Arg)

Gene:

PCDH11X:protocadherin 11 X-linked [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.31

Genomic location:

• ChrX: 91877896 (on Assembly GRCh38)
• ChrX: 91132895 (on Assembly GRCh37)

Preferred name:

NM_032968.5(PCDH11X):c.1656C>G (p.Ser552Arg)

HGVS:

• NC_000023.11:g.91877896C>G
• NG_016251.1:g.103636C>G
• NM_001168360.1:c.1656C>G
• NM_001168361.1:c.1656C>G
• NM_001168362.1:c.1656C>G
• NM_001168363.1:c.1656C>G
• NM_032968.5:c.1656C>GMANE SELECT
• NM_032969.4:c.1656C>G
• NP_001161832.1:p.Ser552Arg
• NP_001161833.1:p.Ser552Arg
• NP_001161834.1:p.Ser552Arg
• NP_001161835.1:p.Ser552Arg
• NP_116750.1:p.Ser552Arg
• NP_116751.1:p.Ser552Arg
• NC_000023.10:g.91132895C>G

This HGVS expression did not pass validation

Protein change:

S552R

Links:

dbSNP: rs1190053024

NCBI 1000 Genomes Browser:

rs1190053024

Molecular consequence:

• NM_001168360.1:c.1656C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001168361.1:c.1656C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001168362.1:c.1656C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001168363.1:c.1656C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032968.5:c.1656C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_032969.4:c.1656C>G - missense variant - [Sequence Ontology: SO:0001583]