Variant #0000330638 (NC_000005.9:g.140799269G>A, NC_000005.9(NM_018916.3):c.2424+73245G>A (PCDHGA3))

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.140799269G>A
DNA change (hg38) -
Published as PCDHGB7(NM_018927.3):c.1843G>A (p.(Gly615Arg))
ISCN -
DB-ID PCDHGA1_000034
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) 0.0027 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDHGC3 NM_002588.2 ?/. - c.-56415G>A r.(?) p.(=)
PCDHGA12 NM_003735.2 ?/. - c.-11058G>A r.(?) p.(=)
PCDHGB4 NM_003736.2 ?/. - c.2397+29421G>A r.(=) p.(=)
PCDHGA1 NM_018912.2 ?/. - c.2422-75105G>A r.(=) p.(=)
PCDHGA10 NM_018913.2 ?/. - c.2436+4091G>A r.(=) p.(=)
PCDHGA11 NM_018914.2 ?/. - c.-1526G>A r.(?) p.(=)
PCDHGA2 NM_018915.2 ?/. - c.2425-75105G>A r.(=) p.(=)
PCDHGA3 NM_018916.3 ?/. - c.2424+73245G>A r.(=) p.(=)
PCDHGA4 NM_018917.2 ?/. - c.2421+62081G>A r.(=) p.(=)
PCDHGA5 NM_018918.2 ?/. - c.2421+52951G>A r.(=) p.(=)
PCDHGA6 NM_018919.2 ?/. - c.2424+43195G>A r.(=) p.(=)
PCDHGA7 NM_018920.2 ?/. - c.2424+34379G>A r.(=) p.(=)
PCDHGA9 NM_018921.2 ?/. - c.2424+14326G>A r.(=) p.(=)
PCDHGB1 NM_018922.2 ?/. - c.2409+67033G>A r.(=) p.(=)
PCDHGB2 NM_018923.2 ?/. - c.2421+57146G>A r.(=) p.(=)
PCDHGB3 NM_018924.2 ?/. - c.2415+46893G>A r.(=) p.(=)
PCDHGB5 NM_018925.2 ?/. - c.2397+19178G>A r.(=) p.(=)
PCDHGB6 NM_018926.2 ?/. - c.2418+9082G>A r.(=) p.(=)
PCDHGB7 NM_018927.3 ?/. - c.1843G>A r.(?) p.(Gly615Arg)
PCDHGC4 NM_018928.2 ?/. - c.-65472G>A r.(?) p.(=)
PCDHGC5 NM_018929.2 ?/. - c.-69539G>A r.(?) p.(=)
PCDHGA8 NM_032088.1 ?/. - c.2424+24465G>A r.(=) p.(=)


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