RGD:156145129 Rat Genome Database

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Variant: RGD:156145129 -  Homo sapiens

RGD ID: 156145129
ClinVar ID: CV2265027
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 46,476,692
GRCh38 18 48,950,322
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190821.2:c.103G>A
NM_005904.4:c.103G>A
NG_023330.1:g.5390G>A
NC_000018.10:g.48950322C>T
More... 		01/26/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SMAD7
Accession:NM_005904
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGSELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHPHPPAA
GAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLC
KVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTADCPDAVPSSAETGGTNY
LAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCG
IQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFV
KGWGQCYTRQFISSCPCWLEVIFNSR*

Gene Symbol:SMAD7
Accession:NM_001190821
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGSELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHPHPPAA
GAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLC
KVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTDCPDAVPSSAETGGTNYL
APGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGI
QLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVK
GWGQCYTRQFISSCPCWLEVIFNSR*

Gene Symbol:SMAD7
Accession:XM_047437509
Location:INTRON

Gene Symbol:SMAD7
Accession:NM_001190823
Location:INTRON

Gene Symbol:SMAD7
Accession:NM_001190822
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004126186 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SMAD7 CLINVAR
OMIM 602932 CLINVAR