Variant #0000501788 (NC_000004.11:g.187206865T>G, NM_000128.3:c.1378T>G (F11))
Individual ID |
00247740 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.187206865T>G |
DNA change (hg38) |
g.186285711T>G |
Published as |
p.(Phe442Val) |
ISCN |
- |
DB-ID |
F11_000052 |
Variant remarks |
submitted through SIB; ExPASy_012094; {dbSNP121965065} |
Reference |
PubMed: Imanaka et al (1995) |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
SIB - Livia Famiglietti |
Database submission license |
No license selected |
Created by |
SIB - Livia Famiglietti |
Date created |
2012-06-06 15:26:09 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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