NM_001001894.2(TTC3):c.4994C>G (p.Ala1665Gly)Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV705688 (NM_001001894.2(TTC3):c.4994C>G (p.Ala1665Gly)) Homo sapiens

Symbol: CV705688
Name: NM_001001894.2(TTC3):c.4994C>G (p.Ala1665Gly)
RGD ID: 15184767
Condition: not provided [RCV000952789]
Clinical Significance: likely benign
Last Evaluated: 12/28/2017
Review Status: criteria provided, single submitter
Related Genes: TTC3   TTC3-AS1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001353937.2:c.2828C>G
NM_001353938.2:c.2828C>G
NM_001330681.2:c.4064C>G
NM_001330682.2:c.4064C>G
NM_001353936.2:c.4064C>G
NM_001001894.2:c.4994C>G
NM_001330683.2:c.4994C>G
NM_003316.4:c.4994C>G
NM_001320704.2:c.5048C>G
NM_001320703.2:c.5114C>G
NC_000021.9:g.37188565C>G
NC_000021.8:g.38560866C>G
NR_046651.1:n.198G>C
NP_001317610.1:p.Ala1355Gly
NP_001317611.1:p.Ala1355Gly
NP_001340865.1:p.Ala1355Gly
NP_001001894.1:p.Ala1665Gly
NP_001317612.1:p.Ala1665Gly
NP_003307.3:p.Ala1665Gly
NP_001307633.1:p.Ala1683Gly
NP_001307632.1:p.Ala1705Gly
NP_001340866.1:p.Ala943Gly
NP_001340867.1:p.Ala943Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh382137,188,565 - 37,188,565CLINVAR
GRCh372138,560,866 - 38,560,866CLINVAR
Cytogenetic Map2121q22.13CLINVAR



Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000952789 CLINVAR
dbSNP (RS) rs148719957 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TTC3 CLINVAR
  TTC3-AS1 CLINVAR
OMIM 602259 CLINVAR