NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)Rat Genome Database

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Variant : CV550318 (NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)) Homo sapiens

Symbol: CV550318
Name: NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)
RGD ID: 13789540
Condition: Moyamoya disease 1 [RCV000755174]|Moyamoya disease 6 with achalasia [RCV000677374]
Clinical Significance: pathogenic
Last Evaluated: 08/16/2018
Review Status: no assertion criteria provided
Related Genes: GUCY1A1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only|research
HGVS Name(s): NC_000004.11:g.156634713G>A
NG_034128.1:g.51852G>A
NC_000004.12:g.155713561G>A
NP_000847.2:p.Cys517Tyr
NM_000856.6:c.1550G>A
NM_001130682.3:c.1550G>A
NM_001130684.3:c.1550G>A
NM_001130687.2:c.1550G>A
NM_001256449.2:c.1550G>A
NM_001130685.3:c.845G>A
NP_001124157.1:p.Cys282Tyr
NP_001124154.1:p.Cys517Tyr
NP_001124155.1:p.Cys517Tyr
NM_000856.5:c.1550G>A
NP_001124156.1:p.Cys517Tyr
NP_001124159.1:p.Cys517Tyr
NM_001130683.4:c.1550G>A
NP_001243378.1:p.Cys517Tyr
Position
Human AssemblyChrPosition (strand)Source
GRCh384155,713,561 - 155,713,561CLINVAR
GRCh374156,634,713 - 156,634,713CLINVAR
Cytogenetic Map44q32.1CLINVAR
Trait Synonyms: MOYAMOYA 6 WITH ACHALASIA; MYMY1; Spontaneous occlusion of the circle of Willis



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:26777256  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000677374 CLINVAR
  RCV000755174 CLINVAR
dbSNP (RS) rs751701114 CLINVAR
MedGen C2931384 CLINVAR
  C3810403 CLINVAR
NCBI Gene GUCY1A1 CLINVAR
OMIM 139396 CLINVAR
  252350 CLINVAR
  615750 CLINVAR
OMIM Allele 139396.0004 CLINVAR