RGD:155979206 Rat Genome Database

RGD:155979206 Rat Genome Database

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Variant: RGD:155979206 - Homo sapiens

RGD ID:

155979206

ClinVar ID:

CV2247208

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KLK7

Reference Nucleotide:

A

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	51,483,157
GRCh38	19	50,979,901

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_644806.1:p.Cys165Ser NP_001193982.1:p.Cys93Ser NM_001207053.2:c.277T>A NM_001243126.1:c.472T>A More...	10/22/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	KLK7
Accession:	NM_001207053
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	93

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNEYTVHLGSDTLGDRRAQRIKASKSFRHPGYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTT TSPDVTFPSDLMSVDVKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGLVSWGTFPCGQPNDP GVYTQVCKFTKWINDTMKKHR*

Gene Symbol:	KLK7
Accession:	NM_005046
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	165

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARSLLLPLQILLLSLALETAGEEAQGDKIIDGAPCARGSHPWQVALLSGNQLHCGGVLVNERWVLTAAHCKMNEYTVHL GSDTLGDRRAQRIKASKSFRHPGYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTTTSPDVTFP SDLMSVDVKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGLVSWGTFPCGQPNDPGVYTQVCK FTKWINDTMKKHR*

Gene Symbol:	KLK7
Accession:	NM_139277
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	165

Amino Acid Sequence (Calculated using NCBI transcript definition)
MARSLLLPLQILLLSLALETAGEEAQGDKIIDGAPCARGSHPWQVALLSGNQLHCGGVLVNERWVLTAAHCKMNEYTVHL GSDTLGDRRAQRIKASKSFRHPGYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTTTSPDVTFP SDLMSVDVKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGLVSWGTFPCGQPNDPGVYTQVCK FTKWINDTMKKHR*

Gene Symbol:	KLK7
Accession:	NM_001243126
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	158

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKILEPSCVPAQVGTWITSDPLELQQERPFLAWQPLSGSAGHHGKIPSPAPADLTAILSLGNCRRRSEYTVHLGSDTLGD RRAQRIKASKSFRHPGYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTTTSPDVTFPSDLMSVD VKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGLVSWGTFPCGQPNDPGVYTQVCKFTKWIND TMKKHR*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004114726	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	KLK7	CLINVAR
OMIM	604438	CLINVAR