RGD:155991610 Rat Genome Database

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Variant: RGD:155991610 -  Homo sapiens

RGD ID: 155991610
ClinVar ID: CV2355492
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRRD  TFIP11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 26,887,496
GRCh38 22 26,491,530
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001346862.2:c.*483G>A
NM_012143.4:c.*483G>A
NM_001013694.3:c.878C>T
NC_000022.11:g.26491530C>T
More... 		01/26/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TFIP11
Accession:NM_001346858
Location:3UTRS;EXON

Gene Symbol:TFIP11
Accession:NM_012143
Location:3UTRS;EXON

Gene Symbol:TFIP11
Accession:NM_001346859
Location:3UTRS;EXON

Gene Symbol:TFIP11
Accession:NM_001346861
Location:3UTRS;EXON

Gene Symbol:TFIP11
Accession:NM_001346862
Location:3UTRS;EXON

Gene Symbol:TFIP11
Accession:NM_001008697
Location:3UTRS;EXON

Gene Symbol:SRRD
Accession:XM_017028799
Location:3UTRS;EXON

Gene Symbol:TFIP11
Accession:NM_001346857
Location:3UTRS;EXON

Gene Symbol:SRRD
Accession:NM_001013694
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAAAALESWQAAAPRKRRSAARRPRRREAAPRGREAAPRGREAAPRGPEAEFESDSGVVLRRIWEAEKDLFISDFWS
SALETINRCLTKHLEQLKAPVGTLSDIFGNLHLDSLPEESDVATDSIPREILVTGTCHLKCVCYGIGNFATCIVARNQLT
FLLLLLEKCQIPRSHCWVYDPLFSQLEIEVLNTLGVTVLSENEEGKRSIRGEPTIFYMLHCGTALYNNLLWSNWSVDALS
KMVIIGNSFKGLEERLLARILQKNYPYIAKILKGLEELEFPQTSQYMDIFNDISVHWFPVQKLEQLSIDIWEFREEPDYQ
DCEDLEIIRNKREDPSATD*

Gene Symbol:SRRD
Accession:XM_011530178
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSNCIWGPALSETINRCLTKHLEQLKAPVGTLSDIFGNLHLDSLPEESDVATDSIPREILVTGTCHLKCVCYGIGNFAT
CIVARNQLTFLLLLLEKCQIPRSHCWVYDPLFSQLEIEVLNTLGVTVLSENEEGKRSIRGEPTIFYMLHCGTALYNNLLW
SNWSVDALSKMVIIGNSFKGLEERLLARILQKNYPYIAKILKGLEELEFPQTSQYMDIFNDISVHWFPVQKLEQLSIDIW
EFREEPDYQDCEDLEIIRNKREDPSATD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004205342 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SRRD CLINVAR
  TFIP11 CLINVAR
OMIM 602254 CLINVAR
  612747 CLINVAR