Difference between revisions of "Rs58918655"

Revision as of 00:32, 15 July 2015

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Reference

GRCh37 37.1/132

Chromosome

17

Position

39023020

Gene

0

ClinVar
Risk	rs58918655(G;G)
Alt	rs58918655(G;G)
Reference	Rs58918655(T;T)
Significance	Pathogenic
Disease	Meesman's corneal dystrophy not provided
Variation	info
Gene	KRT12 LOC105371777
CLNDBN	Meesman's corneal dystrophy not provided
Reversed	1
HGVS	NC_000017.11:g.40866768A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008388.3, RCV000056425.1,

@@ Line 30: / Line 30: @@
 |SSR=0
 |SAO=1
-|VP=0x050160000a05000002110100
+|VP=0x050160080a05000002110100
-|GENEINFO=KRT12:3859
+|GENEINFO=KRT12:3859; LOC105371777:105371777
-|GENE_NAME=KRT12
+|GENE_NAME=KRT12; LOC105371777
-|GENE_ID=3859
+|GENE_ID=3859; 105371777
 |WGT=1
 |VC=SNV
 |CLNALLE=1
 |CLNHGVS=NC_000017.11:g.40866768A>C
-|CLNSRC=ClinVar; Epithelial Biology; OMIM Allelic Variant
+|CLNSRC=OMIM Allelic Variant
 |CLNORIGIN=1
-|CLNSRCID=NM_000223.3:c.419T>G; KRT12:c.419T>G; 601687.0006
+|CLNSRCID=601687.0006
 |CLNSIG=5
 |CLNCUI=C0339277
@@ Line 46: / Line 46: @@
 |Disease=Meesman's corneal dystrophy; not provided
 |CLNACC=RCV000008388.3; RCV000056425.1
-|Tags=RV;PM;SLO;NSM;REF;ASP;LSD;OM
+|Tags=RV;PM;SLO;NSM;REF;INT;ASP;LSD;OM
 |CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
 |CLNDSDBID=C0339277:122100:ORPHA98954:1674008; CN221809
-|CLNREVSTAT=single; not
+|CLNREVSTAT=no_assertion_criteria_provided; no_assertion_provided
 }}
 {{on chip | 23andMe v3}}
 {{on chip | 23andMe v4}}