Variant #0000609645 (NC_000005.9:g.176830570G>A, NM_000505.3:c.1299C>T (F12))

Chromosome 5
Allele Unknown
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.176830570G>A
DNA change (hg38) g.177403569G>A
Published as F12(NM_000505.3):c.1299C>T (p.N433=)
ISCN -
DB-ID F12_000026
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00085 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-06-18 11:09:14 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F12 NM_000505.3 -?/. - c.1299C>T r.(?) p.(Asn433=)
PFN3 NM_001029886.2 -?/. - c.-2993C>T r.(?) p.(=)
SLC34A1 NM_003052.4 -?/. - c.*5283G>A r.(=) p.(=)


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