RGD:156187907 Rat Genome Database

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Variant: RGD:156187907 -  Homo sapiens

RGD ID: 156187907
ClinVar ID: CV2346767
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN2  TIMP4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 12,195,904
GRCh38 3 12,154,404
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003256.4:c.400A>G
NM_003178.6:c.774+3078T>C
NM_133625.6:c.774+3078T>C
NG_011728.2:g.155017T>C
More... 		10/12/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TIMP4
Accession:NM_003256
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGSPRPAPSWVLLLRLLALLRPPGLGEACSCAPAHPQQHICHSALVIRAKISSEKVVPASADPADTEKMLRYEIKQIKM
FKGFEKVKDVQYIYTPFDSSLCGVKLEANSQKQYLLTGQVLSDGKVFIHLCNYLEPWEDLSLVQRESLNHHYHLNCGCQI
TTCYTVPCTISAPNECLWTDWLLERKLYGYQAQHYVCMKHVDGTCSWYRGHLPLRKEFVDIVQP*

Gene Symbol:SYN2
Accession:NM_133625
Location:INTRON

Gene Symbol:SYN2
Accession:NM_003178
Location:INTRON

Gene Symbol:SYN2
Accession:XM_006713311
Location:INTRON

Gene Symbol:SYN2
Accession:XM_006713312
Location:INTRON

Gene Symbol:SYN2
Accession:XM_006713313
Location:INTRON

Gene Symbol:SYN2
Accession:XM_017007087
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004199779 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SYN2 CLINVAR
  TIMP4 CLINVAR
OMIM 600755 CLINVAR
  601915 CLINVAR