Variant #0000401196 (NC_000023.10:g.14891816C>G, MOSPD2(NM_152581.3):c.15C>G)

Individual ID 00173531
Chromosome X
Allele Parent #1
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.14891816C>G
DNA change (hg38) g.14873694C>G
Published as H5Q
ISCN -
DB-ID MOSPD2_000009
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MOSPD2 NM_152581.3 ?/. 2 c.15C>G r.(?) p.(His5Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000174414 DNA SEQ - - PRRG1 1 Lucy Raymond