NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)Rat Genome Database

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Variant : CV550317 (NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)) Homo sapiens

Symbol: CV550317
Name: NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)
RGD ID: 13789537
Condition: Moyamoya disease 1 [RCV000755172]|Moyamoya disease 6 with achalasia [RCV000677373]
Clinical Significance: pathogenic
Last Evaluated: 08/16/2018
Review Status: no assertion criteria provided
Related Genes: GUCY1A1  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: literature only|research
HGVS Name(s): NC_000004.12:g.155713269C>T
NG_034128.1:g.51560C>T
NP_000847.2:p.Arg420Ter
NC_000004.11:g.156634421C>T
NM_001130683.4:c.1258C>T
NM_001130684.3:c.1258C>T
NM_001130687.2:c.1258C>T
NM_001130685.3:c.553C>T
NM_000856.5:c.1258C>T
NM_000856.6:c.1258C>T
NM_001130682.3:c.1258C>T
NM_001256449.2:c.1258C>T
NP_001124157.1:p.Arg185Ter
NP_001124154.1:p.Arg420Ter
NP_001124155.1:p.Arg420Ter
NP_001124156.1:p.Arg420Ter
NP_001124159.1:p.Arg420Ter
NP_001243378.1:p.Arg420Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh384155,713,269 - 155,713,269CLINVAR
GRCh374156,634,421 - 156,634,421CLINVAR
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 RCV000677373 CLINVAR
  RCV000755172 CLINVAR
dbSNP (RS) rs373182378 CLINVAR
MedGen C2931384 CLINVAR
  C3810403 CLINVAR
NCBI Gene GUCY1A1 CLINVAR
OMIM 139396 CLINVAR
  252350 CLINVAR
  615750 CLINVAR
OMIM Allele 139396.0006 CLINVAR