Variant #0000334803 (NC_000023.10:g.84363716G>C, SATL1(NM_001012980.2):c.259C>G)

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.84363716G>C
DNA change (hg38) g.85108710G>C
Published as SATL1(NM_001012980.2):c.259C>G (p.(Pro87Ala))
ISCN -
DB-ID SATL1_000016 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00422 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SATL1 NM_001012980.2 -?/. - c.259C>G r.(?) p.(Pro87Ala)
APOOL NM_198450.5 -?/. - c.*21032G>C r.(=) p.(=)