Variant #0000141542 (NC_000006.11:g.35466243G>T, NC_000006.11(NM_003322.3):c.1496-6C>A (TULP1))
Individual ID |
00087944 |
Chromosome |
6 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.35466243G>T |
DNA change (hg38) |
g.35498466G>T |
Published as |
IVS14-6C>A |
ISCN |
- |
DB-ID |
TULP1_000041 See all 20 reported entries |
Variant remarks |
Technique: also used LInkage Analysis |
Reference |
PubMed: Gu 1998 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
9.0E-5 View details |
Owner |
Raheel Qamar |
Database submission license |
No license selected |
Created by |
Raheel Qamar |
Date created |
2012-09-06 09:49:02 +02:00 (CEST) |
Date last edited |
2021-06-22 03:11:29 +02:00 (CEST) |

Variant on transcripts
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