Difference between revisions of "Rs104894639"

Revision as of 04:33, 1 April 2016

minus

Geno	Mag	Summary
(A;G)	3	Carrier of a Sanfilippo syndrome type A mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

17

Position

80210622

Gene

3

ClinVar
Risk	rs104894639(A;A)
Alt	rs104894639(A;A)
Reference	Rs104894639(G;G)
Significance	Pathogenic
Disease	Mucopolysaccharidosis not provided
Variation	info
Gene	SGSH
CLNDBN	Mucopolysaccharidosis, MPS-III-A not provided
Reversed	1
HGVS	NC_000017.10:g.78184421C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000005421.3, RCV000153943.3,

@@ Line 24: / Line 24: @@
 |REF=C
 |ALT=T
-|RSPOS=80210622
+|RSPOS=78184421
 |CHROM=17
 |dbSNPBuildID=132
 |SSR=0
 |SAO=1
-|VP=0x0502600c0a05000002110100
+|VP=0x0502600c0a05040002110100
 |GENEINFO=SGSH:6448
 |GENE_NAME=SGSH
@@ Line 36: / Line 36: @@
 |VC=SNV
 |CLNALLE=1
-|CLNHGVS=NC_000017.11:g.80210622C>T
+|CLNHGVS=NC_000017.10:g.78184421C>T
 |CLNSRC=HGMD; OMIM Allelic Variant
 |CLNORIGIN=1
@@ Line 44: / Line 44: @@
 |CLNDBN=Mucopolysaccharidosis, MPS-III-A; not provided
 |Disease=Mucopolysaccharidosis; not provided
-|CLNACC=RCV000005421.1; RCV000153943.2
+|CLNACC=RCV000005421.3; RCV000153943.3
-|Tags=RV;PM;S3D;NSM;REF;INT;R3;ASP;LSD;OM
+|Tags=RV;PM;S3D;NSM;REF;INT;R3;ASP;VLD;LSD;OM
-|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
+|CLNDSDB=MedGen:OMIM:SNOMED_CT; MedGen
-|CLNDSDBID=NBK1875:C0086647:252900:ORPHA581:41572006; CN221809
+|CLNDSDBID=C0086647:252900:41572006; CN221809
-|CLNREVSTAT=no_assertion_criteria_provided; criteria_provided\x2c_single_submitter
+|CLNREVSTAT=no_criteria; single
 }}