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NM_030957.3:c.1190+1G>A
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NM_030957.3:c.1190+1G>A
HGVS Expressions
NG_011840.2:g.19397G>A
NM_030957.3:c.1190+1G>A
NP_112219.3:p.?
NC_000019.10:g.8596306C>T
Associated Genes
A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif, 10
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
431825170
Clinvar
1945
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
277600.1.4
Saudi Arabia
2
Pathogenic
Dagoneau et al. 2004
Sibling of 277600.1.5 and 277600.1.6
277600.1.5
Saudi Arabia
2
Pathogenic
Dagoneau et al. 2004
Sibling of 277600.1.4 and 277600.1.6
277600.1.6
Saudi Arabia
2
Pathogenic
Dagoneau et al. 2004
Sibling of 277600.1.4 and 277600.1.5
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Contributors
Pratibha Nair: 31.05.2018
Edit History
Pratibha Nair: 12.10.2022
Pratibha Nair: 26.12.2018
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