RGD:401780787 Rat Genome Database

RGD:401780787 Rat Genome Database

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Variant: RGD:401780787 - Homo sapiens

RGD ID:

401780787

ClinVar ID:

CV2685720

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CD5L

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	1	157,804,301
GRCh38	1	157,834,511

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001347698.2:c.614A>G NM_005894.3:c.614A>G NC_000001.11:g.157834511T>C NC_000001.10:g.157804301T>C More...	06/05/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	CD5L
Accession:	NM_005894
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALLFSLILAICTRPGFLASPSGVRLVGGLHRCEGRVEVEQKGQWGTVCDDGWDIKDVAVLCRELGCGAASGTPSGILYE PPAEKEQKVLIQSVSCTGTEDTLAQCEQEEVYDCSHDEDAGASCENPESSFSPVPEGVRLADGPGHCKGRVEVKHQNQWY TVCQTGWSLRAAKVVCRQLGCGRAVLTQKRCNKHAYGRKPIWLSRMSCSGREATLQDCPSGPWGKNTCNHDEDTWVECED PFDLRLVGGDNLCSGRLEVLHKGVWGSVCDDNWGEKEDQVVCKQLGCGKSLSPSFRDRKCYGPGVGRIWLDNVRCSGEEQ SLEQCQHRFWGFHDCTHQEDVAVICSG*

Gene Symbol:	CD5L
Accession:	XM_017002806
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	205
TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALLFSLILAICTRPGFLASPSGVRLVGGLHRCEGRVEVEQKGQWGTVCDDGWDIKDVAVLCRELGCGAASGTPSGILYE PPAEKEQKVLIQSVSCTGTEDTLAQCEQEEVYDCSHDEDAGASCENPESSFSPVPEGVRLADGPGHCKGRVEVKHQNQWY TVCQTGWSLRAAKVVCRQLGCGRAVLTQKRCNKHAYGRKPIWLSRMSCSGREATLQDCPSGPWGKNTCNHDEDTWVECED PFDLRLVGGDNLCSGRLEVLHKGVWGSVCDDNWGEKEDQVVCKQLGCGKSLSPSFRDRKCYGPGVGRIWLDNVRCSGEEQ SLEQCQHRFWGFHDCTHQEDVAVICS

Gene Symbol:	CD5L
Accession:	NM_001347698
Location:	EXON
Amino Acid Prediction:	Q to R (nonsynonymous)
Amino Acid Position:	205

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALLFSLILAICTRPGFLASPSGVRLVGGLHRCEGRVEVEQKGQWGTVCDDGWDIKDVAVLCRELGCGAASGTPSGILYE PPAEKEQKVLIQSVSCTGTEDTLAQCEQEEVYDCSHDEDAGASCENPESSFSPVPEGVRLADGPGHCKGRVEVKHQNQWY TVCQTGWSLRAAKVVCRQLGCGRAVLTQKRCNKHAYGRKPIWLSRMSCSGREATLQDCPSGPWGKNTCNHDEDTWVECED PFDLRLVGGDNLCSGRLEVLHKGVWGSVCDDNWGEKEDQVVCKQLGCGKSLSPSFRDRKCYGPGVGRIWLDNVRCSGEEQ SLEQCQHRFWGFHDCTHQEDVAVICSV*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004296766	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CD5L	CLINVAR
OMIM	602592	CLINVAR