ClinVar

NM_032968.5(PCDH11X):c.3060C>T (p.Cys1020=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.31

Genomic location:

• ChrX: 92201401 (on Assembly GRCh38)
• ChrX: 91456400 (on Assembly GRCh37)

Preferred name:

NM_032968.5(PCDH11X):c.3060C>T (p.Cys1020=)

HGVS:

• NC_000023.11:g.92201401C>T
• NG_016251.1:g.427141C>T
• NM_001168360.1:c.3060C>T
• NM_001168361.1:c.3060C>T
• NM_001168362.1:c.3034-186334C>T
• NM_001168363.1:c.3060C>T
• NM_032968.5:c.3060C>TMANE SELECT
• NM_032969.4:c.3060C>T
• NP_001161832.1:p.Cys1020=
• NP_001161833.1:p.Cys1020=
• NP_001161835.1:p.Cys1020=
• NP_116750.1:p.Cys1020=
• NP_116750.1:p.Cys1020=
• NP_116751.1:p.Cys1020=
• NC_000023.10:g.91456400C>T
• NM_032968.4:c.3060C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs139061770

NCBI 1000 Genomes Browser:

rs139061770

Molecular consequence:

• NM_001168362.1:c.3034-186334C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001168360.1:c.3060C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001168361.1:c.3060C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001168363.1:c.3060C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032968.5:c.3060C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032969.4:c.3060C>T - synonymous variant - [Sequence Ontology: SO:0001819]