Variant #0000000722 (NC_000004.12:g.1806167G>A, NM_000142.4:c.1953G>A (FGFR3))

Individual ID 00000138
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.1806167G>A
Published as 1807894G > A
Reference Nurul-Syakima Ab Mutalib et al. (2014)
DB-ID FGFR3_000001
dbSNP ID -
Frequency 9
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-08 10:47:48 +08:00 (CST)
Date last edited 2020-12-06 14:43:21 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
FGFR3 NM_000142.4 +?/. - c.1953G>A - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000153 DNA SEQ-NG;PCR FGFR3 1 Nuur Athirah Binti Mohd Daud