RGD:13216754 Rat Genome Database

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Variant: RGD:13216754 -  Homo sapiens

RGD ID: 13216754
RS ID: rs1244445697
ClinVar ID: CV430778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TSPAN7  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 38,530,633
GRCh38 X 38,671,379
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004615.3:c.274G>T
NP_004606.2:p.Ala92Ser
NP_004606.2:p.Ala92Ser
NM_004615.4:c.274G>T
More... 		07/15/2016 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TSPAN7
Accession:NM_004615
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRRMETKPVITCLKTLLIIYSFVFWITGVILLAVGVWGKLTLGTYISLIAENSTNAPYVLIGTGTTIVVFGLFGCFAT
CRGSPWMLKLYSMFLSLVFLAELVAGISGFVFRHEIKDTFLRTYTDAMQTYNGNDERSRAVDHVQRSLSCCGVQNYTNWS
TSPYFLEHGIPPSCCMNETDCNPQDLHNLTVAATKVNQKGCYDLVTSFMETNMGIIAGVAFGIAFSQLIGMLLACCLSRF
ITANQYEMV*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000504051 CLINVAR
dbSNP (RS) rs1244445697 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TSPAN7 CLINVAR
OMIM 300096 CLINVAR