Variant #0000330622 (NC_000005.9:g.140768982G>A, PCDHGA3(NM_018916.3):c.2424+42958G>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.140768982G>A
DNA change (hg38) -
Published as PCDHGB4(NM_003736.2):c.1531G>A (p.(Val511Met))
ISCN -
DB-ID PCDHGA1_000018
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) 1.0E-5 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.-86702G>A r.(?) p.(=)
PCDHGA12 NM_003735.2 ?/. - c.-41345G>A r.(?) p.(=)
PCDHGB4 NM_003736.2 ?/. - c.1531G>A r.(?) p.(Val511Met)
PCDHGA1 NM_018912.2 ?/. - c.2421+56310G>A r.(=) p.(=)
PCDHGA10 NM_018913.2 ?/. - c.-23761G>A r.(?) p.(=)
PCDHGA11 NM_018914.2 ?/. - c.-31813G>A r.(?) p.(=)
PCDHGA2 NM_018915.2 ?/. - c.2424+48020G>A r.(=) p.(=)
PCDHGA3 NM_018916.3 ?/. - c.2424+42958G>A r.(=) p.(=)
PCDHGA4 NM_018917.2 ?/. - c.2421+31794G>A r.(=) p.(=)
PCDHGA5 NM_018918.2 ?/. - c.2421+22664G>A r.(=) p.(=)
PCDHGA6 NM_018919.2 ?/. - c.2424+12908G>A r.(=) p.(=)
PCDHGA7 NM_018920.2 ?/. - c.2424+4092G>A r.(=) p.(=)
PCDHGA9 NM_018921.2 ?/. - c.-13538G>A r.(?) p.(=)
PCDHGB1 NM_018922.2 ?/. - c.2409+36746G>A r.(=) p.(=)
PCDHGB2 NM_018923.2 ?/. - c.2421+26859G>A r.(=) p.(=)
PCDHGB3 NM_018924.2 ?/. - c.2415+16606G>A r.(=) p.(=)
PCDHGB5 NM_018925.2 ?/. - c.-8713G>A r.(?) p.(=)
PCDHGB6 NM_018926.2 ?/. - c.-18788G>A r.(?) p.(=)
PCDHGB7 NM_018927.3 ?/. - c.-28445G>A r.(?) p.(=)
PCDHGC4 NM_018928.2 ?/. - c.-95759G>A r.(?) p.(=)
PCDHGC5 NM_018929.2 ?/. - c.-99826G>A r.(?) p.(=)
PCDHGA8 NM_032088.1 ?/. - c.-3399G>A r.(?) p.(=)