Variant #0000330611 (NC_000005.9:g.140741548C>A, PCDHGA3(NM_018916.3):c.2424+15524C>A)

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.140741548C>A
DNA change (hg38) -
Published as PCDHGB2(NM_018923.2):c.1846C>A (p.(Leu616Ile))
ISCN -
DB-ID PCDHGA1_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00022 View details
Owner VKGL-NL_Leiden
Database submission license No license selected
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDHGC3 NM_002588.2 ?/. - c.-114136C>A r.(?) p.(=)
PCDHGA12 NM_003735.2 ?/. - c.-68779C>A r.(?) p.(=)
PCDHGB4 NM_003736.2 ?/. - c.-25904C>A r.(?) p.(=)
PCDHGA1 NM_018912.2 ?/. - c.2421+28876C>A r.(=) p.(=)
PCDHGA10 NM_018913.2 ?/. - c.-51195C>A r.(?) p.(=)
PCDHGA11 NM_018914.2 ?/. - c.-59247C>A r.(?) p.(=)
PCDHGA2 NM_018915.2 ?/. - c.2424+20586C>A r.(=) p.(=)
PCDHGA3 NM_018916.3 ?/. - c.2424+15524C>A r.(=) p.(=)
PCDHGA4 NM_018917.2 ?/. - c.2421+4360C>A r.(=) p.(=)
PCDHGA5 NM_018918.2 ?/. - c.-2350C>A r.(?) p.(=)
PCDHGA6 NM_018919.2 ?/. - c.-12103C>A r.(?) p.(=)
PCDHGA7 NM_018920.2 ?/. - c.-20919C>A r.(?) p.(=)
PCDHGA9 NM_018921.2 ?/. - c.-40972C>A r.(?) p.(=)
PCDHGB1 NM_018922.2 ?/. - c.2409+9312C>A r.(=) p.(=)
PCDHGB2 NM_018923.2 ?/. - c.1846C>A r.(?) p.(Leu616Ile)
PCDHGB3 NM_018924.2 ?/. - c.-8414C>A r.(?) p.(=)
PCDHGB5 NM_018925.2 ?/. - c.-36147C>A r.(?) p.(=)
PCDHGB6 NM_018926.2 ?/. - c.-46222C>A r.(?) p.(=)
PCDHGB7 NM_018927.3 ?/. - c.-55879C>A r.(?) p.(=)
PCDHGC4 NM_018928.2 ?/. - c.-123193C>A r.(?) p.(=)
PCDHGC5 NM_018929.2 ?/. - c.-127260C>A r.(?) p.(=)
PCDHGA8 NM_032088.1 ?/. - c.-30833C>A r.(?) p.(=)