Variant #0000611482 (NC_000008.10:g.144516504G>C, MAFA(NM_201589.3):c.-3928C>G)

Chromosome 8
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.144516504G>C
DNA change (hg38) g.143434334G>C
Published as -
ISCN -
DB-ID MAFA_000009
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license No license selected
Created by VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ZC3H3 NM_015117.2 -?/. - c.*3722C>G r.(=) p.(=)
MAFA NM_201589.3 -?/. - c.-3928C>G r.(?) p.(=)