Variant #0000537590 (NC_000009.11:g.140508745C>T, EHMT1(NM_024757.4):c.-4736C>T)

Chromosome 9
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.140508745C>T
DNA change (hg38) g.137614293C>T
Published as ARRDC1(NM_152285.2):c.619-6C>T (p.(=))
ISCN -
DB-ID ARRDC1_000001
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) 0.00768 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EHMT1 NM_024757.4 -?/. - c.-4736C>T r.(?) p.(=)
C9orf37 NM_032937.4 -?/. - c.*1376G>A r.(=) p.(=)
ARRDC1 NM_152285.2 -?/. - c.619-6C>T r.(=) p.(=)