Difference between revisions of "Rs58918655"

Revision as of 18:46, 31 March 2016

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
CLNDBN	Meesman's corneal dystrophy not provided
Reversed	1
HGVS	NC_000017.10:g.39023020A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008388.4, RCV000056425.1,

@@ Line 25: / Line 25: @@
 |REF=A
 |ALT=C
-|RSPOS=40866768
+|RSPOS=39023020
 |CHROM=17
 |dbSNPBuildID=133
 |SSR=0
 |SAO=1
-|VP=0x050160080a05000002110100
+|VP=0x050160000a05000002110100
-|GENEINFO=KRT12:3859; LOC105371777:105371777
+|GENEINFO=KRT12:3859
-|GENE_NAME=KRT12; LOC105371777
+|GENE_NAME=KRT12
-|GENE_ID=3859; 105371777
+|GENE_ID=3859
 |WGT=1
 |VC=SNV
 |CLNALLE=1
-|CLNHGVS=NC_000017.11:g.40866768A>C
+|CLNHGVS=NC_000017.10:g.39023020A>C
 |CLNSRC=OMIM Allelic Variant
 |CLNORIGIN=1
@@ Line 45: / Line 45: @@
 |CLNDBN=Meesman's corneal dystrophy; not provided
 |Disease=Meesman's corneal dystrophy; not provided
-|CLNACC=RCV000008388.3; RCV000056425.1
+|CLNACC=RCV000008388.4; RCV000056425.1
-|Tags=RV;PM;SLO;NSM;REF;INT;ASP;LSD;OM
+|Tags=RV;PM;SLO;NSM;REF;ASP;LSD;OM
-|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
+|CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT; MedGen
-|CLNDSDBID=C0339277:122100:ORPHA98954:1674008; CN221809
+|CLNDSDBID=C0339277:122100:98954:1674008; CN221809
-|CLNREVSTAT=no_assertion_criteria_provided; no_assertion_provided
+|CLNREVSTAT=no_criteria; no_assertion
 }}
 {{on chip | 23andMe v3}}
 {{on chip | 23andMe v4}}