ClinVar

NM_001384140.1(PCDH15):c.1836C>T (p.Ser612=)

Gene:

PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.1

Genomic location:

• Chr10: 54132956 (on Assembly GRCh38)
• Chr10: 55892716 (on Assembly GRCh37)

Preferred name:

NM_001384140.1(PCDH15):c.1836C>T (p.Ser612=)

HGVS:

• NC_000010.11:g.54132956G>A
• NG_009191.3:g.1501227C>T
• NM_001142763.2:c.1851C>T
• NM_001142764.2:c.1836C>T
• NM_001142765.2:c.1784+20144C>T
• NM_001142766.2:c.1836C>T
• NM_001142767.2:c.1725C>T
• NM_001142768.2:c.1770C>T
• NM_001142769.3:c.1872C>T
• NM_001142770.3:c.1836C>T
• NM_001142771.2:c.1851C>T
• NM_001142772.2:c.1836C>T
• NM_001142773.2:c.1770C>T
• NM_001354404.2:c.1770C>T
• NM_001354411.2:c.1857C>T
• NM_001354420.2:c.1836C>T
• NM_001354429.2:c.1836C>T
• NM_001354430.2:c.1836C>T
• NM_001384140.1:c.1836C>TMANE SELECT
• NM_033056.4:c.1836C>T
• NP_001136235.1:p.Ser617=
• NP_001136236.1:p.Ser612=
• NP_001136238.1:p.Ser612=
• NP_001136239.1:p.Ser575=
• NP_001136240.1:p.Ser590=
• NP_001136241.1:p.Ser624=
• NP_001136242.1:p.Ser612=
• NP_001136243.1:p.Ser617=
• NP_001136244.1:p.Ser612=
• NP_001136245.1:p.Ser590=
• NP_001341333.1:p.Ser590=
• NP_001341340.1:p.Ser619=
• NP_001341349.1:p.Ser612=
• NP_001341358.1:p.Ser612=
• NP_001341359.1:p.Ser612=
• NP_001371069.1:p.Ser612=
• NP_149045.3:p.Ser612=
• NC_000010.10:g.55892716G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs200226791

NCBI 1000 Genomes Browser:

rs200226791

Molecular consequence:

• NM_001142765.2:c.1784+20144C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142763.2:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142764.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142766.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142767.2:c.1725C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142768.2:c.1770C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142769.3:c.1872C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142770.3:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142771.2:c.1851C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142772.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142773.2:c.1770C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354404.2:c.1770C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354411.2:c.1857C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354420.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354429.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354430.2:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384140.1:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033056.4:c.1836C>T - synonymous variant - [Sequence Ontology: SO:0001819]