NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)Rat Genome Database

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Variant : CV535368 (NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)) Homo sapiens

Symbol: CV535368
Name: NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)
RGD ID: 13609059
Condition: Cerebral arteriovenous malformation [RCV000656334]
Clinical Significance: likely pathogenic
Last Evaluated: 02/14/2018
Review Status: criteria provided, single submitter
Related Genes: ZFYVE16  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NP_055548.4:p.Asp1148Tyr
NC_000005.10:g.80451544G>T
NC_000005.9:g.79747363G>T
NM_014733.3:c.3442G>T
NM_001105251.4:c.3442G>T
NM_001284236.3:c.3442G>T
NM_001349434.2:c.3442G>T
NM_014733.6:c.3442G>T
NP_001098721.2:p.Asp1148Tyr
NP_001271165.2:p.Asp1148Tyr
NP_001336363.2:p.Asp1148Tyr
NR_146174.2:n.3847G>T
NR_146173.2:n.3676G>T
NR_146172.2:n.3902G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38580,451,544 - 80,451,544CLINVAR
GRCh37579,747,363 - 79,747,363CLINVAR
Cytogenetic Map55q14.1CLINVAR
Trait Synonyms: Arteriovenous malformations of the brain; CEREBRAL ARTERIOVENOUS MALFORMATIONS; Cerebral AV malformation



Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000656334 CLINVAR
dbSNP (RS) rs1554047435 CLINVAR
MedGen C0917804 CLINVAR
NCBI Gene ZFYVE16 CLINVAR
OMIM 108010 CLINVAR
  608880 CLINVAR
SNOMED CT 234142008 CLINVAR