Variant #0000577088 (NC_000023.10:g.68382773C>G, NC_000023.10(NM_022368.4):c.293+16G>C (PJA1))

Chromosome X
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.68382773C>G
DNA change (hg38) g.69162930C>G
Published as PJA1(NM_001032396.2):c.144G>C (p.(Glu48Asp)), PJA1(NM_145119.3):c.309G>C (p.E103D)
ISCN -
DB-ID PJA1_000003 See all 2 reported entries
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) 0.00011 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2019-12-04 15:24:38 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PJA1 NM_022368.4 -?/. - c.293+16G>C r.(=) p.(=)


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