Genomic variant #0000275936

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.28386622G>T
DNA change (hg38) -
Published as EFCAB5(NM_198529.3):c.2640G>T (p.K880N)
ISCN -
DB-ID EFCAB5_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SSH2 NM_033389.2 ?/. - c.-129604C>A VUS r.(?) p.(=)
EFCAB5 NM_198529.3 ?/. - c.2640G>T VUS r.(?) p.(Lys880Asn)