RGD:405788643 Rat Genome Database

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Variant: RGD:405788643 -  Homo sapiens

RGD ID: 405788643
ClinVar ID: CV3330059
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP7  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 102,398,336
GRCh38 11 102,527,605
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002423.5:c.403A>T
NC_000011.10:g.102527605T>A
NC_000011.9:g.102398336T>A
NM_002423.3:c.403A>T
More... 		09/26/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MMP7
Accession:NM_002423
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLTVLCAVCLLPGSLALPLPQEAGGMSELQWEQAQDYLKRFYLYDSETKNANSLEAKLKEMQKFFGLPITGMLNSRVIE
IMQKPRCGVPDVAEYSLFPNSPKWTSKVVTYRIVSYTRDLPHITVDRLVSKALNLWGKEIPLHFRKVVWGTADIMIGFAR
GAHGDSYPFDGPGNTLAHAFAPGTGLGGDAHFDEDERWTDGSSLGINFLYAATHELGHSLGMGHSSDPNAVMYPTYGNGD
PQNFKLSQDDIKGIQKLYGKRSNSRKK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004460086 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MMP7 CLINVAR
OMIM 178990 CLINVAR