Variant #0000677107 (NC_000003.11:g.9743494G>A, MTMR14(NM_001077525.2):c.1790G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.9743494G>A
DNA change (hg38) -
Published as MTMR14(NM_001077525.2):c.1790G>A (p.(Arg597Gln))
ISCN -
DB-ID CPNE9_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTMR14 NM_001077525.2 ?/. - c.1790G>A r.(?) p.(Arg597Gln)
CPNE9 NM_153635.2 ?/. - c.-2187G>A r.(?) p.(=)