RGD:156088940 Rat Genome Database

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Variant: RGD:156088940 -  Homo sapiens

RGD ID: 156088940
ClinVar ID: CV2344317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLK12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 51,532,581
GRCh38 19 51,029,325
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001370127.1:c.394C>T
NM_019598.3:c.707+17C>T
NP_665902.2:p.Arg132Trp
NP_001357054.1:p.Arg242Trp
More... 		04/25/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KLK12
Accession:NM_145894
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSIFLLLCVLGLSQAATPKIFNGTECGRNSQPWQVGLFEGTSLRCGGVLIDHRWVLTAAHCSGSRYWVRLGEHSLSQL
DWTEQIRHSGFSVTHPGYLGASTSHEHDLRLLRLRLPVRVTSSVQPLPLPNDCATAGTECHVSGWGITNHPRNPFPDLLQ
CLNLSIVSHATCHGVYPGRITSNMVCAGGVPGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDW
IWMIMRNN*

Gene Symbol:KLK12
Accession:NM_145895
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVGVTHSRGRWGCLRAPACAAGVSLLTTGGSSQRLTAAADPFPDLLQCLNLSIVSHATCHGVYPGRITSNMVCAGGV
PGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDWIWMIMRNN*

Gene Symbol:KLK12
Accession:NM_001370127
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVGVTHSRGRWGCLRAPACAAGVSLLTTGGSSQRLTAAADPFPDLLQCLNLSIVSHATCHGVYPGRITSNMVCAGGV
PGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDWIWMIMRNN*

Gene Symbol:KLK12
Accession:NM_001370125
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSIFLLLCVLGLSQAATPKIFNGTECGRNSQPWQVGLFEGTSLRCGGVLIDHRWVLTAAHCSGSRYWVRLGEHSLSQL
DWTEQIRHSGFSVTHPGYLGASTSHEHDLRLLRLRLPVRVTSSVQPLPLPNDCATAGTECHVSGWGITNHPRNPFPDLLQ
CLNLSIVSHATCHGVYPGRITSNMVCAGGVPGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDW
IWMIMRNN*

Gene Symbol:KLK12
Accession:NM_001370128
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 132
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVGVTHSRGRWGCLRAPACAAGVSLLTTGGSSQRLTAAADPFPDLLQCLNLSIVSHATCHGVYPGRITSNMVCAGGV
PGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDWIWMIMRNN*

Gene Symbol:KLK12
Accession:NM_019598
Location:INTRON

Gene Symbol:KLK12
Accession:NM_001370126
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004195075 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KLK12 CLINVAR
OMIM 605539 CLINVAR