Variant #0000524564 (NC_000005.9:g.140890702G>A, NM_005219.4:c.*5716C>T (DIAPH1))

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.140890702G>A
DNA change (hg38) -
Published as PCDHGA1(NM_018912.2):c.2758G>A (p.(Gly920Ser))
ISCN -
DB-ID DIAPH1_000030
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) 0.00037 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 2019-07-18 18:22:55 +02:00 (CEST)
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.2767G>A r.(?) p.(Gly923Ser)
PCDHGA12 NM_003735.2 -?/. - c.2761G>A r.(?) p.(Gly921Ser)
PCDHGB4 NM_003736.2 -?/. - c.2734G>A r.(?) p.(Gly912Ser)
DIAPH1 NM_005219.4 -?/. - c.*5716C>T r.(=) p.(=)
PCDHGA1 NM_018912.2 -?/. - c.2758G>A r.(?) p.(Gly920Ser)
PCDHGA10 NM_018913.2 -?/. - c.2773G>A r.(?) p.(Gly925Ser)
PCDHGA11 NM_018914.2 -?/. - c.2770G>A r.(?) p.(Gly924Ser)
PCDHGA2 NM_018915.2 -?/. - c.2761G>A r.(?) p.(Gly921Ser)
PCDHGA3 NM_018916.3 -?/. - c.2761G>A r.(?) p.(Gly921Ser)
PCDHGA4 NM_018917.2 -?/. - c.2758G>A r.(?) p.(Gly920Ser)
PCDHGA5 NM_018918.2 -?/. - c.2758G>A r.(?) p.(Gly920Ser)
PCDHGA6 NM_018919.2 -?/. - c.2761G>A r.(?) p.(Gly921Ser)
PCDHGA7 NM_018920.2 -?/. - c.2761G>A r.(?) p.(Gly921Ser)
PCDHGA9 NM_018921.2 -?/. - c.2761G>A r.(?) p.(Gly921Ser)
PCDHGB1 NM_018922.2 -?/. - c.2746G>A r.(?) p.(Gly916Ser)
PCDHGB2 NM_018923.2 -?/. - c.2758G>A r.(?) p.(Gly920Ser)
PCDHGB3 NM_018924.2 -?/. - c.2752G>A r.(?) p.(Gly918Ser)
PCDHGB5 NM_018925.2 -?/. - c.2734G>A r.(?) p.(Gly912Ser)
PCDHGB6 NM_018926.2 -?/. - c.2755G>A r.(?) p.(Gly919Ser)
PCDHGB7 NM_018927.3 -?/. - c.2752G>A r.(?) p.(Gly918Ser)
PCDHGC4 NM_018928.2 -?/. - c.2779G>A r.(?) p.(Gly927Ser)
PCDHGC5 NM_018929.2 -?/. - c.2797G>A r.(?) p.(Gly933Ser)
PCDHGA8 NM_032088.1 -?/. - c.2761G>A r.(?) p.(Gly921Ser)


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