RGD:156280664 Rat Genome Database

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Variant: RGD:156280664 -  Homo sapiens

RGD ID: 156280664
ClinVar ID: CV2252260
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TCF19  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 31,127,440
GRCh38 6 31,159,663
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001077511.2:c.194G>A
NM_001318908.2:c.194G>A
NM_007109.3:c.194G>A
NG_054878.1:g.3576C>T
More... 		12/02/2021 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TCF19
Accession:NM_007109
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCFQLLRIGGGRGGDLYTFHPPAGAGCTYRLGHRADLCDVALRPQQEPGLISGIHAELHAEPQGDDWRVSLEDHSSQG
TLVNNVRLPRGHRLELSDGDLLTFGPEGPPGTSPSEFYFMFQQVRVKPQDFAAITIPRSRGEARVGAGFRPMLPSQGAPQ
RPLSTFSPAPKATLILNSIGSLSKLRPQPLTFSPSWGGPKSLPVPAPPGEMGTTPSAPPQRNRRKSVHRVLAELDDESEP
PENPPPVLMEPRKKLRVDKAPLTPTGNRRGRPRKYPVSAPMAPPAVGGGEPCAAPCCCLPQEETVAWVQCDGCDVWFHVA
CVGCSIQAAREADFRCPGCRAGIQT*

Gene Symbol:TCF19
Accession:XM_047419273
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCFQLLRIGGGRGGDLYTFHPPAGAGCTYRLGHRADLCDVALRPQQEPGLISGIHAELHAEPQGDDWRVSLEDHSSQG
TLVNNVRLPRGHRLELSDGDLLTFGPEGPPGTSPSEFYFMFQQVRVKPQDFAAITIPRSRGEARVGAGFRPMLPSQGAPQ
RPLSTFSPAPKATLILNSIGSLSKLRPQPLTFSPSWGGPKSLPVPAPPGEMGTTPSAPPQRNRRKSVHRVLAELDDESEP
PENPPPVLMEPRKKLRVDKAPLTPTGNRRGRPRKYPVSAPMAPPAVGGGEPCAAPCCCLPQEETVAWVQCDGCDVWFHVA
CVGCSIQAAREADFRCPGCRAGIQT*

Gene Symbol:TCF19
Accession:NM_001318908
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCFQLLRIGGGRGGDLYTFHPPAGAGCTYRLGHRADLCDVALRPQQEPGLISGIHAELHAEPQGDDWRVSLEDHSSQG
TLVNNVRLPRGHRLELSDGDLLTFGPEGPPGTSPSEFYFMFQQVRVKPQDFAAITIPRSRGEARVGAGFRPMLPSQGAPQ
RPLSTFSPAPKATLILNSIGSLSKLRPQPLTFSPSWGGPKSLPVPAPPGEMGTTPSAPPQRNRRKSVHRVLAELDDESEP
PENPPPVLMEPRKKLRVDKAPLTPTGNRRGRPRKYPVSAPMAPPAVGGGEPCAAPCCCLPQEETVAWVQCDGCDVWFHVA
CVGCSIQAAREADFRCPGCRAGIQT*

Gene Symbol:TCF19
Accession:XM_047419274
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCFQLLRIGGGRGGDLYTFHPPAGAGCTYRLGHRADLCDVALRPQQEPGLISGIHAELHAEPQGDDWRVSLEDHSSQG
TLVNNVRLPRGHRLELSDGDLLTFGPEGPPGTSPSEFYFMFQQVRVKPQDFAAITIPRSRGEARVGAGFRPMLPSQGAPQ
RPLSTFSPAPKATLILNSIGSLSKLRPQPLTFSPSWGGPKSLPVPAPPGEMGTTPSAPPQRNRRKSVHRVLAELDDESEP
PENPPPVLMEPRKKLRVDKAPLTPTGNRRGRPRKYPVSAPMAPPAVGGGEPCAAPCCCLPQEETVAWVQCDGCDVWFHVA
CVGCSIQAAREADFRCPGCRAGIQT*

Gene Symbol:TCF19
Accession:NM_001077511
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPCFQLLRIGGGRGGDLYTFHPPAGAGCTYRLGHRADLCDVALRPQQEPGLISGIHAELHAEPQGDDWRVSLEDHSSQG
TLVNNVRLPRGHRLELSDGDLLTFGPEGPPGTSPSEFYFMFQQVRVKPQDFAAITIPRSRGEARVGAGFRPMLPSQGAPQ
RPLSTFSPAPKATLILNSIGSLSKLRPQPLTFSPSWGGPKSLPVPAPPGEMGTTPSAPPQRNRRKSVHRVLAELDDESEP
PENPPPVLMEPRKKLRVDKAPLTPTGNRRGRPRKYPVSAPMAPPAVGGGEPCAAPCCCLPQEETVAWVQCDGCDVWFHVA
CVGCSIQAAREADFRCPGCRAGIQT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004116128 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TCF19 CLINVAR
OMIM 600912 CLINVAR