Variant #0000524544 (NC_000005.9:g.140755334A>T, PCDHGA3(NM_018916.3):c.2424+29310A>T)

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.140755334A>T
DNA change (hg38) -
Published as PCDHGA6(NM_018919.2):c.1684A>T (p.I562F)
ISCN -
DB-ID PCDHGA1_000052
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00039 View details
Owner VKGL-NL_Rotterdam
Database submission license No license selected
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDHGC3 NM_002588.2 -?/. - c.-100350A>T r.(?) p.(=)
PCDHGA12 NM_003735.2 -?/. - c.-54993A>T r.(?) p.(=)
PCDHGB4 NM_003736.2 -?/. - c.-12118A>T r.(?) p.(=)
PCDHGA1 NM_018912.2 -?/. - c.2421+42662A>T r.(=) p.(=)
PCDHGA10 NM_018913.2 -?/. - c.-37409A>T r.(?) p.(=)
PCDHGA11 NM_018914.2 -?/. - c.-45461A>T r.(?) p.(=)
PCDHGA2 NM_018915.2 -?/. - c.2424+34372A>T r.(=) p.(=)
PCDHGA3 NM_018916.3 -?/. - c.2424+29310A>T r.(=) p.(=)
PCDHGA4 NM_018917.2 -?/. - c.2421+18146A>T r.(=) p.(=)
PCDHGA5 NM_018918.2 -?/. - c.2421+9016A>T r.(=) p.(=)
PCDHGA6 NM_018919.2 -?/. - c.1684A>T r.(?) p.(Ile562Phe)
PCDHGA7 NM_018920.2 -?/. - c.-7133A>T r.(?) p.(=)
PCDHGA9 NM_018921.2 -?/. - c.-27186A>T r.(?) p.(=)
PCDHGB1 NM_018922.2 -?/. - c.2409+23098A>T r.(=) p.(=)
PCDHGB2 NM_018923.2 -?/. - c.2421+13211A>T r.(=) p.(=)
PCDHGB3 NM_018924.2 -?/. - c.2415+2958A>T r.(=) p.(=)
PCDHGB5 NM_018925.2 -?/. - c.-22361A>T r.(?) p.(=)
PCDHGB6 NM_018926.2 -?/. - c.-32436A>T r.(?) p.(=)
PCDHGB7 NM_018927.3 -?/. - c.-42093A>T r.(?) p.(=)
PCDHGC4 NM_018928.2 -?/. - c.-109407A>T r.(?) p.(=)
PCDHGC5 NM_018929.2 -?/. - c.-113474A>T r.(?) p.(=)
PCDHGA8 NM_032088.1 -?/. - c.-17047A>T r.(?) p.(=)