NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV514053 (NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)) Homo sapiens

Symbol: CV514053
Name: NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
RGD ID: 13612227
Condition: Cerebral arteriovenous malformation [RCV000626955]
Clinical Significance: uncertain significance
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: CACNA1H  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NP_001005407.1:p.Ser2289Phe
NC_000016.10:g.1220816C>T
NC_000016.9:g.1270816C>T
NP_066921.2:p.Ser2295Phe
NG_012647.1:g.72576C>T
NM_001005407.1:c.6866C>T
NM_021098.3:c.6884C>T
NM_021098.2:c.6884C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38161,220,816 - 1,220,816CLINVAR
GRCh37161,270,816 - 1,270,816CLINVAR
Cytogenetic Map1616p13.3CLINVAR
Trait Synonyms: Arteriovenous malformations of the brain; CEREBRAL ARTERIOVENOUS MALFORMATIONS; Cerebral AV malformation; Hand tremor; Tremor; Tremor of hand; Tremor of hands; tremors in hands



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 RCV000626955 CLINVAR
dbSNP (RS) rs772718469 CLINVAR
MedGen C0917804 CLINVAR
NCBI Gene CACNA1H CLINVAR
OMIM 108010 CLINVAR
  607904 CLINVAR
SNOMED CT 234142008 CLINVAR