Variant #0000573226 (NC_000023.10:g.119004571C>T, NDUFA1(NM_004541.3):c.-1304C>T)

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.119004571C>T
DNA change (hg38) g.119870608C>T
Published as RNF113A(NM_006978.2):c.1006G>A (p.(Asp336Asn))
ISCN -
DB-ID RNF113A_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) 0.00812 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     
NDUFA1 NM_004541.3 -?/. - c.-1304C>T r.(?) p.(=)
RNF113A NM_006978.2 -?/. - c.1006G>A r.(?) p.(Asp336Asn)