Difference between revisions of "Rs41292677"

Revision as of 04:51, 5 July 2015

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;G)	3	Carrier of a mutation for Stargardt disease
(G;G)	6	Stargardt disease

Reference

GRCh38 38.1/141

Chromosome

1

Position

94001992

Gene

0.003673

6

ClinVar
Risk	Rs41292677(G;G)
Alt	Rs41292677(G;G)
Reference	Rs41292677(C;C)
Significance	Pathogenic
Disease	Stargardt disease 1 not provided
Variation	info
Gene	ABCA4
CLNDBN	Stargardt disease 1 not provided
Reversed	0
HGVS	NC_000001.11:g.94001992C>G
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000008335.1, RCV000078671.4,

GET Evidence
ABCA4-V2050L
aa_change	Val2050Leu
aa_change_short	V2050L
impact	pathogenic
qualified_impact	High clinical importance, Uncertain pathogenic
overall_frequency	0.00371816
summary	Reported to cause Stargardt Disease (progressive vision loss) in a recessive manner.

@@ Line 41: / Line 41: @@
 |CLNALLE=1
 |CLNHGVS=NC_000001.11:g.94001992C>G
-|CLNSRC=ClinVar; Emory University; OMIM Allelic Variant; Retina International
+|CLNSRC=HGMD; OMIM Allelic Variant
 |CLNORIGIN=1
-|CLNSRCID=NM_000350.2:c.6148G>C; 11450; 601691.0005; RISN-ABCR:c.6148G>C
+|CLNSRCID=CM970020; 601691.0005
 |CLNSIG=5
 |CLNCUI=C1855465
 |CLNDBN=Stargardt disease 1; not provided
 |Disease=Stargardt disease 1; not provided
-|CLNACC=RCV000008335.1; RCV000078671.2
+|CLNACC=RCV000008335.1; RCV000078671.4
 |Tags=PM;S3D;SLO;NSM;REF;ASP;VLD;HD;GNO;KGPhase1;KGPhase3;LSD;OM
 |CAF=0.9972; 0.002796
@@ Line 54: / Line 54: @@
 |CLNDSDBID=C1855465:248200:ORPHA827; CN221809
 |COMMON=1
-|CLNREVSTAT=single
+|CLNREVSTAT=no_assertion_criteria_provided; criteria_provided\x2c_single_submitter
 }}