RGD:405688334 Rat Genome Database

RGD:405688334 Rat Genome Database

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Variant: RGD:405688334 - Homo sapiens

RGD ID:

405688334

ClinVar ID:

CV3305983

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	110,221,762
GRCh38	4	109,300,606

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001256074.3:c.344C>T NM_032518.4:c.344C>T NM_198721.4:c.344C>T NG_047204.1:g.7147C>T More...	11/06/2023	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3305983	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	COL25A1
Accession:	NM_198721
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPD TLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREALSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGD QGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLG PPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESG RPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKG DRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGL KGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGTDGPMGP HGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGLDGLDAPCQ LGPDGLPMPGCWQK*

Gene Symbol:	COL25A1
Accession:	NM_032518
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPD TLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREALSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGD QGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLG PPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESG RPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKG DRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGL KGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGTDGPMGP HGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKVTSPSQHVPCLILLLLSALLFSLCD SI*

Gene Symbol:	COL25A1
Accession:	NM_001256074
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPD TLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREALSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGD QGPRGLPGFPTVAALHSNQILTVKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQ KGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQ KGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGDRGEKGDSGAQGPRGPPGQ KGDQGATEIIDYNGNLHEALQGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGA NGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGEPGLNGVKGLKGEPGQKGDRGPLGLPGASGLDGK PGSRGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGFPGPRGEKGDLGEKGEKVTSPSQHVPCLILLLLSALLFS LCDSI*

Gene Symbol:	COL25A1
Accession:	XM_011532335
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPD TLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREALSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGD QGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLG PPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESG RPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKG DRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGL KGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGEPGLNGV KGLKGEPGQKGDRGPLGLPGASGLDGKPGSRGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPG PRGEKGDLGEKGEKGEKGKKGKKGPKGEKGEQGAPGLDAPCPLGPDGLPMPGCWQK*

Gene Symbol:	COL25A1
Accession:	XM_011532334
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPD TLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREALSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGD QGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLG PPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESG RPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKG DRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGL KGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGEPGLNGV KGLKGEPGQKGDRGPLGLPGASGLDGKPGSRGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPG PRGEKGDLGEKGEKGEKGKKGKKGPKGEKGEQGAPGLDAPCPLGPDGLPMPGCWQK*

Gene Symbol:	COL25A1
Accession:	XM_011532333
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSIHLLPD TLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREALSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGD QGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLG PPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESG RPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKG DRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGL KGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGEPGLNGV KGLKGEPGQKGDRGPLGLPGASGLDGKPGSRGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPG PRGEKGDLGEKGEKGEKGKKGKKGPKGEKGEQGAPGLDAPCPLGPDGLPMPGCWQK*

Gene Symbol:	COL25A1
Accession:	NR_045756
Location:	EXON;NON-CODING

Gene Symbol:	COL25A1
Accession:	XM_011532356
Location:	INTRON

Gene Symbol:	COL25A1
Accession:	XM_011532355
Location:	INTRON

Gene Symbol:	COL25A1
Accession:	XM_011532358
Location:	INTRON

Gene Symbol:	COL25A1
Accession:	XM_017008737
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004444845	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	COL25A1	CLINVAR
OMIM	610004	CLINVAR