RGD:156281633 Rat Genome Database

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Variant: RGD:156281633 -  Homo sapiens

RGD ID: 156281633
ClinVar ID: CV2317322
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMP7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 102,401,412
GRCh38 11 102,530,681
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.20G>A
NC_000011.10:g.102530681C>T
NC_000011.9:g.102401412C>T
NM_002423.3:c.20G>A
More... 		12/01/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MMP7
Accession:NM_002423
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLTVLYAVCLLPGSLALPLPQEAGGMSELQWEQAQDYLKRFYLYDSETKNANSLEAKLKEMQKFFGLPITGMLNSRVIE
IMQKPRCGVPDVAEYSLFPNSPKWTSKVVTYRIVSYTRDLPHITVDRLVSKALNMWGKEIPLHFRKVVWGTADIMIGFAR
GAHGDSYPFDGPGNTLAHAFAPGTGLGGDAHFDEDERWTDGSSLGINFLYAATHELGHSLGMGHSSDPNAVMYPTYGNGD
PQNFKLSQDDIKGIQKLYGKRSNSRKK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004178807 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MMP7 CLINVAR
OMIM 178990 CLINVAR