ClinVar

NM_001384140.1(PCDH15):c.4671+1624G>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.1

Genomic location:

• Chr10: 53808932 (on Assembly GRCh38)
• Chr10: 55568692 (on Assembly GRCh37)

Preferred name:

NM_001384140.1(PCDH15):c.4671+1624G>A

HGVS:

• NC_000010.11:g.53808932C>T
• NG_009191.3:g.1825251G>A
• NM_001142769.3:c.5133G>A
• NM_001142770.3:c.*548G>A
• NM_001142771.2:c.4497+1624G>A
• NM_001142772.2:c.4482+1624G>A
• NM_001354411.2:c.5112G>A
• NM_001354420.2:c.4476+1624G>A
• NM_001354429.2:c.4605+1624G>A
• NM_001384140.1:c.4671+1624G>AMANE SELECT
• NP_001136241.1:p.Val1711=
• NP_001341340.1:p.Val1704=
• NC_000010.10:g.55568692C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1285905443

NCBI 1000 Genomes Browser:

rs1285905443

Molecular consequence:

• NM_001142770.3:c.*548G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001142771.2:c.4497+1624G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142772.2:c.4482+1624G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354420.2:c.4476+1624G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354429.2:c.4605+1624G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001384140.1:c.4671+1624G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142769.3:c.5133G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354411.2:c.5112G>A - synonymous variant - [Sequence Ontology: SO:0001819]