ClinVar

NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.1

Genomic location:

• Chr10: 53822337 (on Assembly GRCh38)
• Chr10: 55582097 (on Assembly GRCh37)

Preferred name:

NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser)

HGVS:

• NC_000010.11:g.53822337G>A
• NG_009191.3:g.1811846C>T
• NM_001142763.2:c.5410C>T
• NM_001142764.2:c.5395C>T
• NM_001142765.2:c.5182C>T
• NM_001142766.2:c.5380C>T
• NM_001142767.2:c.5269C>T
• NM_001142768.2:c.5329C>T
• NM_001142769.3:c.4409+2799C>T
• NM_001142770.3:c.4373+2799C>T
• NM_001142771.2:c.4388+2799C>T
• NM_001142772.2:c.4373+2799C>T
• NM_001142773.2:c.5320C>T
• NM_001354404.2:c.5323C>T
• NM_001354411.2:c.4388+5056C>T
• NM_001354420.2:c.4367+5056C>T
• NM_001354429.2:c.4368-4324C>T
• NM_001384140.1:c.4368-2107C>TMANE SELECT
• NM_033056.4:c.5389C>T
• NP_001136235.1:p.Pro1804Ser
• NP_001136236.1:p.Pro1799Ser
• NP_001136237.1:p.Pro1728Ser
• NP_001136238.1:p.Pro1794Ser
• NP_001136239.1:p.Pro1757Ser
• NP_001136240.1:p.Pro1777Ser
• NP_001136245.1:p.Pro1774Ser
• NP_001341333.1:p.Pro1775Ser
• NP_149045.3:p.Pro1797Ser
• NC_000010.10:g.55582097G>A

This HGVS expression did not pass validation

Protein change:

P1728S

Links:

dbSNP: rs775203432

NCBI 1000 Genomes Browser:

rs775203432

Molecular consequence:

• NM_001142769.3:c.4409+2799C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142770.3:c.4373+2799C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142771.2:c.4388+2799C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142772.2:c.4373+2799C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354411.2:c.4388+5056C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354420.2:c.4367+5056C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354429.2:c.4368-4324C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384140.1:c.4368-2107C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142763.2:c.5410C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142764.2:c.5395C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142765.2:c.5182C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142766.2:c.5380C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142767.2:c.5269C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142768.2:c.5329C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142773.2:c.5320C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354404.2:c.5323C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_033056.4:c.5389C>T - missense variant - [Sequence Ontology: SO:0001583]