ClinVar

NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q21.1

Genomic location:

• Chr10: 54132880 (on Assembly GRCh38)
• Chr10: 55892640 (on Assembly GRCh37)

Preferred name:

NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)

HGVS:

• NC_000010.11:g.54132880G>A
• NG_009191.3:g.1501303C>T
• NM_001142763.2:c.1927C>T
• NM_001142764.2:c.1912C>T
• NM_001142765.2:c.1784+20220C>T
• NM_001142766.2:c.1912C>T
• NM_001142767.2:c.1801C>T
• NM_001142768.2:c.1846C>T
• NM_001142769.3:c.1948C>T
• NM_001142770.3:c.1912C>T
• NM_001142771.2:c.1927C>T
• NM_001142772.2:c.1912C>T
• NM_001142773.2:c.1846C>T
• NM_001354404.2:c.1846C>T
• NM_001354411.2:c.1933C>T
• NM_001354420.2:c.1912C>T
• NM_001354429.2:c.1912C>T
• NM_001354430.2:c.1912C>T
• NM_001384140.1:c.1912C>TMANE SELECT
• NM_033056.4:c.1912C>T
• NP_001136235.1:p.Leu643=
• NP_001136236.1:p.Leu638=
• NP_001136238.1:p.Leu638=
• NP_001136239.1:p.Leu601=
• NP_001136240.1:p.Leu616=
• NP_001136241.1:p.Leu650=
• NP_001136242.1:p.Leu638=
• NP_001136243.1:p.Leu643=
• NP_001136244.1:p.Leu638=
• NP_001136245.1:p.Leu616=
• NP_001341333.1:p.Leu616=
• NP_001341340.1:p.Leu645=
• NP_001341349.1:p.Leu638=
• NP_001341358.1:p.Leu638=
• NP_001341359.1:p.Leu638=
• NP_001371069.1:p.Leu638=
• NP_149045.3:p.Leu638=
• NC_000010.10:g.55892640G>A
• NM_033056.3:c.1912C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs763230126

NCBI 1000 Genomes Browser:

rs763230126

Molecular consequence:

• NM_001142765.2:c.1784+20220C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142763.2:c.1927C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142764.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142766.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142767.2:c.1801C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142768.2:c.1846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142769.3:c.1948C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142770.3:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142771.2:c.1927C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142772.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142773.2:c.1846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354404.2:c.1846C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354411.2:c.1933C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354420.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354429.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354430.2:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384140.1:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033056.4:c.1912C>T - synonymous variant - [Sequence Ontology: SO:0001819]