RGD:8628785 Rat Genome Database

RGD:8628785 Rat Genome Database

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Variant: RGD:8628785 - Homo sapiens

RGD ID:

8628785

ClinVar ID:

CV83929

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CSF1

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	1	110,466,661
GRCh38	1	109,924,039

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_172210.2:c.1091-21C>T NM_172212.2:c.1418C>T NM_000757.5:c.1418C>T NG_030008.1:g.18429C>T More...		missense\|missense variant\|intron variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	CSF1
Accession:	NM_000757
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	473

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTAPGAAGRCPPTTWLGSLLLLVCLLASRSITEEVSEYCSHMIGSGHLQSLQRLIDSQMETSCQITFEFVDQEQLKDPVC YLKKAFLLVQDIMEDTMRFRDNTPNAIAIVQLQELSLRLKSCFTKDYEEHDKACVRTFYETPLQLLEKVKNVFNETKNLL DKDWNIFSKNCNNSFAECSSQDVVTKPDCNCLYPKAIPSSDPASVSPHQPLAPSMAPVAGLTWEDSEGTEGSSLLPGEQP LHTVDPGSAKQRPPRSTCQSFEPPETPVVKDSTIGGSPQPRPSVGAFNPGMEDILDSAMGTNWVPEEASGEASEIPVPQG TELSPSRPGGGSMQTEPARPSNFLSASSPLPASAKGQQPADVTGTALPRVGPVRPTGQDWNHTPQKTDHPSALLRDPPEP GSPRISSLRPQGLSNPSTLSAQPQLSRSHSSGSVLPLGELEGRRSTRDRRSPAEPEGGPASEGAARPLPRFNFVPLTDTG HERQSEGSFSPQLQESVFHLLVPSVILVLLAVGGLLFYRWRRRSHQEPQRADSPLEQPEGSPLTQDDRQVELPV*

Gene Symbol:	CSF1
Accession:	XM_017000369
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	432

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIGSGHLQSLQRLIDSQMETSCQITFEFVDQEQLKDPVCYLKKAFLLVQDIMEDTMRFRDNTPNAIAIVQLQELSLRLKS CFTKDYEEHDKACVRTFYETPLQLLEKVKNVFNETKNLLDKDWNIFSKNCNNSFAECSSQDVVTKPDCNCLYPKAIPSSD PASVSPHQPLAPSMAPVAGLTWEDSEGTEGSSLLPGEQPLHTVDPGSAKQRPPRSTCQSFEPPETPVVKDSTIGGSPQPR PSVGAFNPGMEDILDSAMGTNWVPEEASGEASEIPVPQGTELSPSRPGGGSMQTEPARPSNFLSASSPLPASAKGQQPAD VTGTALPRVGPVRPTGQDWNHTPQKTDHPSALLRDPPEPGSPRISSLRPQGLSNPSTLSAQPQLSRSHSSGSVLPLGELE GRRSTRDRRSPAEPEGGPASEGAARPLPRFNFVPLTDTGHERQSEGSFSPQLQESVFHLLVPSVILVLLAVGGLLFYRWR RRSHQEPQRADSPLEQPEGSPLTQDDRQVELPV*

Gene Symbol:	CSF1
Accession:	NM_172212
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	473

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTAPGAAGRCPPTTWLGSLLLLVCLLASRSITEEVSEYCSHMIGSGHLQSLQRLIDSQMETSCQITFEFVDQEQLKDPVC YLKKAFLLVQDIMEDTMRFRDNTPNAIAIVQLQELSLRLKSCFTKDYEEHDKACVRTFYETPLQLLEKVKNVFNETKNLL DKDWNIFSKNCNNSFAECSSQDVVTKPDCNCLYPKAIPSSDPASVSPHQPLAPSMAPVAGLTWEDSEGTEGSSLLPGEQP LHTVDPGSAKQRPPRSTCQSFEPPETPVVKDSTIGGSPQPRPSVGAFNPGMEDILDSAMGTNWVPEEASGEASEIPVPQG TELSPSRPGGGSMQTEPARPSNFLSASSPLPASAKGQQPADVTGTALPRVGPVRPTGQDWNHTPQKTDHPSALLRDPPEP GSPRISSLRPQGLSNPSTLSAQPQLSRSHSSGSVLPLGELEGRRSTRDRRSPAEPEGGPASEGAARPLPRFNFVPLTDTG HERQSEGSFSPQLQESVFHLLVPSVILVLLAVGGLLFYRWRRRSHQEPQRADSPLEQPEGSPLTQDDRQVELPV*

Gene Symbol:	CSF1
Accession:	XM_047446752
Location:	INTRON

Gene Symbol:	CSF1
Accession:	NM_172211
Location:	INTRON

Gene Symbol:	CSF1
Accession:	NM_172210
Location:	INTRON

Variant Samples