Variant #0000007474 (NC_000023.10:g.114140909A>G, HTR2C(NM_001256760.1):c.551-243A>G)

Individual ID 00000208
Chromosome X
Allele Maternal (inferred)
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.114140909A>G
DNA change (hg38) g.114906346A>G
Published as -
ISCN -
DB-ID HTR2C_000004 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
HTR2C NM_001256760.1 -?/. 6i c.551-243A>G - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000209 DNA SEQ-NG-I - - - 6369 Yu Sun