RGD:597631839 Rat Genome Database

RGD:597631839 Rat Genome Database

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Variant: RGD:597631839 - Homo sapiens

RGD ID:

597631839

ClinVar ID:

CV3659727

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CFC1

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	2	131,356,365
GRCh38	2	130,598,792

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001257350.1:p.Gly33Ser NP_115934.1:p.Gly33Ser NM_001270420.2:c.97G>A NM_001270421.2:c.97G>A More...	06/30/2024	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3659727	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	CFC1
Accession:	NM_032545
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNSGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAF GEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPK DFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL*

Gene Symbol:	CFC1
Accession:	NM_001270421
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNSGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAF GEDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL*

Gene Symbol:	CFC1
Accession:	NM_001270420
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNSGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAF GEVNAAPWSTEPGPSAPATSAGASSGPCTASPSRRLTAVTRKTSWPPTLTGRAPGARPACYSCCPAHSCTASCARMRPRT LGPWSLPSSSGSGAPAEGRDLGIAFNFLCCK*

Gene Symbol:	CFC1
Accession:	XM_011511486
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNSGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAF GEDLENCDLNVLKINIPSQDNSGLLLGFSQTPRPQEAPRRWVWRHHTRGWSRPGGLCLITVR*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004967819	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	CFC1	CLINVAR
OMIM	605194	CLINVAR