RGD:156082838 Rat Genome Database

RGD:156082838 Rat Genome Database

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Variant: RGD:156082838 - Homo sapiens

RGD ID:

156082838

ClinVar ID:

CV2384897

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KLK7

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	51,483,733
GRCh38	19	50,980,477

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001207053.2:c.16G>A NM_001243126.1:c.211G>A NM_005046.4:c.232G>A NM_139277.2:c.232G>A More...	10/05/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	KLK7
Accession:	NM_001207053
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	6

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNEYTMHLGSDTLGDRRAQRIKASKSFRHPGYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTT TSPDVTFPSDLMCVDVKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGLVSWGTFPCGQPNDP GVYTQVCKFTKWINDTMKKHR*

Gene Symbol:	KLK7
Accession:	NM_005046
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARSLLLPLQILLLSLALETAGEEAQGDKIIDGAPCARGSHPWQVALLSGNQLHCGGVLVNERWVLTAAHCKMNEYTMHL GSDTLGDRRAQRIKASKSFRHPGYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTTTSPDVTFP SDLMCVDVKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGLVSWGTFPCGQPNDPGVYTQVCK FTKWINDTMKKHR*

Gene Symbol:	KLK7
Accession:	NM_001243126
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	71

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKILEPSCVPAQVGTWITSDPLELQQERPFLAWQPLSGSAGHHGKIPSPAPADLTAILSLGNCRRRSEYTMHLGSDTLGD RRAQRIKASKSFRHPGYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTTTSPDVTFPSDLMCVD VKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGLVSWGTFPCGQPNDPGVYTQVCKFTKWIND TMKKHR*

Gene Symbol:	KLK7
Accession:	NM_139277
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	78

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARSLLLPLQILLLSLALETAGEEAQGDKIIDGAPCARGSHPWQVALLSGNQLHCGGVLVNERWVLTAAHCKMNEYTMHL GSDTLGDRRAQRIKASKSFRHPGYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTTTSPDVTFP SDLMCVDVKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGLVSWGTFPCGQPNDPGVYTQVCK FTKWINDTMKKHR*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004225772	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	KLK7	CLINVAR
OMIM	604438	CLINVAR