NM_052874.5(STX1B):c.431G>T (p.Cys144Phe)Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV512200 (NM_052874.5(STX1B):c.431G>T (p.Cys144Phe)) Homo sapiens

Symbol: CV512200
Name: NM_052874.5(STX1B):c.431G>T (p.Cys144Phe)
RGD ID: 13532653
Condition: Inborn genetic diseases [RCV000624403]
Clinical Significance: likely pathogenic
Last Evaluated: 02/27/2017
Review Status: criteria provided, single submitter
Related Genes: STX1B  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000016.9:g.31008304C>A
NC_000016.10:g.30996983C>A
NP_443106.1:p.Cys144Phe
NM_052874.3:c.431G>T
NG_041829.1:g.18526G>T
NM_052874.5:c.431G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381630,996,983 - 30,996,983CLINVAR
GRCh371631,008,304 - 31,008,304CLINVAR
Cytogenetic Map1616p11.2CLINVAR



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000624403 CLINVAR
dbSNP (RS) rs1555494259 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene STX1B CLINVAR
OMIM 601485 CLINVAR