RGD:155908082 Rat Genome Database

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Variant: RGD:155908082 -  Homo sapiens

RGD ID: 155908082
ClinVar ID: CV2302351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLK12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 51,537,321
GRCh38 19 51,034,065
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001370125.1:c.112G>A
NM_019598.3:c.112G>A
NM_145894.2:c.112G>A
NM_001370126.1:c.42G>A
More... 		10/03/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KLK12
Accession:NM_145895
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVGVTHSRGR*GCLRAPACAAGVSLLTTGGSSQRLTAAADPFPDLLQCLNLSIVSHATCHGVYPGRITSNMVCAGGV
PGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDWIRMIMRNN*

Gene Symbol:KLK12
Accession:NM_001370126
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVGVTHSRGR*GCLRAPACAAGVSLLTTGGSSQRLTAAADPFPDLLQCLNLSIVSHATCHGVYPGRITSNMVCAGGV
PGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICNSTLVGLGTSWNFNSCQPF*

Gene Symbol:KLK12
Accession:NM_001370127
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVGVTHSRGR*GCLRAPACAAGVSLLTTGGSSQRLTAAADPFPDLLQCLNLSIVSHATCHGVYPGRITSNMVCAGGV
PGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDWIRMIMRNN*

Gene Symbol:KLK12
Accession:NM_001370128
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSVGVTHSRGR*GCLRAPACAAGVSLLTTGGSSQRLTAAADPFPDLLQCLNLSIVSHATCHGVYPGRITSNMVCAGGV
PGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDWIRMIMRNN*

Gene Symbol:KLK12
Accession:NM_019598
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSIFLLLCVLGLSQAATPKIFNGTECGRNSQPWQVRLFEGTSLRCGGVLIDHRWVLTAAHCSGSRYWVRLGEHSLSQL
DWTEQIRHSGFSVTHPGYLGASTSHEHDLRLLRLRLPVRVTSSVQPLPLPNDCATAGTECHVSGWGITNHPRNPFPDLLQ
CLNLSIVSHATCHGVYPGRITSNMVCAGGVPGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICNSTLV
GLGTSWNFNSCQPF*

Gene Symbol:KLK12
Accession:NM_001370125
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSIFLLLCVLGLSQAATPKIFNGTECGRNSQPWQVRLFEGTSLRCGGVLIDHRWVLTAAHCSGSRYWVRLGEHSLSQL
DWTEQIRHSGFSVTHPGYLGASTSHEHDLRLLRLRLPVRVTSSVQPLPLPNDCATAGTECHVSGWGITNHPRNPFPDLLQ
CLNLSIVSHATCHGVYPGRITSNMVCAGGVPGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDW
IRMIMRNN*

Gene Symbol:KLK12
Accession:NM_145894
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLSIFLLLCVLGLSQAATPKIFNGTECGRNSQPWQVRLFEGTSLRCGGVLIDHRWVLTAAHCSGSRYWVRLGEHSLSQL
DWTEQIRHSGFSVTHPGYLGASTSHEHDLRLLRLRLPVRVTSSVQPLPLPNDCATAGTECHVSGWGITNHPRNPFPDLLQ
CLNLSIVSHATCHGVYPGRITSNMVCAGGVPGQDACQGDSGGPLVCGGVLQGLVSWGSVGPCGQDGIPGVYTYICKYVDW
IRMIMRNN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004161106 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KLK12 CLINVAR
OMIM 605539 CLINVAR