Variant #0000001528 (NC_000023.11:g.47585586T>C, NM_003254.2:c.372T>C (TIMP1))

Individual ID 00000322
Chromosome X
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.47585586T>C
Published as -
Reference dbSNP
DB-ID TIMP1_000001 See all 2 reported entries
dbSNP ID rs4898
Frequency 118/133
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 2021-01-05 16:19:24 +08:00 (CST)
Date last edited 2021-09-01 11:44:41 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
TIMP1 NM_003254.2 +/. - c.372T>C - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000337 DNA PCR TIMP1 2 Nuur Athirah Binti Mohd Daud