RGD:13435516 Rat Genome Database

Variant: RGD:13435516 - Homo sapiens

RGD ID:

13435516

RS ID:

rs760956030

ClinVar ID:

CV432314

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CLCN7

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	1,506,173
GRCh38	16	1,456,172

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
NG_007567.1:g.23913G>A NC_000016.10:g.1456172C>T NC_000016.9:g.1506173C>T NP_001278.1:p.Arg286Gln More...	03/25/2024	missense variant	pathogenic\|likely pathogenic\|uncertain significance	Albers-Schoenberg disease; Albers-Schonberg disease; ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT; Albers-Schönberg osteopetrosis; infantile malignant CLCN7-related recessive osteopetrosis; Marble bones; MARBLE BONES, AUTOSOMAL DOMINANT; none provided; Osteopetroses; Osteopetrosis infantile malignant 2; Osteosclerosis; Osteosclerosis fragilis; OSTEOSCLEROSIS FRAGILIS GENERALISATA

Disease Annotations Click to see Annotation Detail View

autosomal dominant osteopetrosis 2 (IAGP)

autosomal recessive osteopetrosis 4 (IAGP)

genetic disease (IAGP)

osteopetrosis (IAGP)

osteosclerosis (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormality of the skeletal system (IAGP)

Increased bone mineral density (IAGP)

Osteopetrosis (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CLCN7
Accession:	XM_011522354
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	228

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSVELDDELLDPDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFRTVEIKRWVICALIGILTG LVACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWATLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKI PHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKQDFVSAGAAAGVS AAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLSSPGLINFGRFDSEKMAYTIHEIPVF IAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGE YNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGA AIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEA PVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSN LGLVQRRLRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQV VGLVTRKDLARYRLGKRGLEELSLAQT*

Gene Symbol:	CLCN7
Accession:	NM_001287
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	286

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMSSVELDDELLDPDMDPPHPFP KEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFRTVEIKRWVICALIGILTGLVACFIDIVVENLAGLKYRVIK GNIDKFTEKGGLSFSLLLWATLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVG GLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKQDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWN QFLTWRIFFASMISTFTLNFVLSIYHGNMWDLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLT MFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHD PPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAIWADPGKYALMGAAAQLGGIV RMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSHSLTAREVMSTPVTCLRR REKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRDAYPRFPP IQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLEEL SLAQT*

Gene Symbol:	CLCN7
Accession:	NM_001114331
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	262

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSEN QLFLEEERRINHTAFRTVEIKRWVICALIGILTGLVACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWATLNA AFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQG RSTSLKRDFKIFEYFRRDTEKQDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSI YHGNMWDLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVT ATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWT YGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIM LVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVV EHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPS PYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLEELSLAQT*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:11741829	PMID:14584882	PMID:17164308	PMID:19543743	PMID:21527911	PMID:21962762	PMID:23983121	PMID:25741868	PMID:25741905	PMID:26365571	PMID:28492532	PMID:30942407
PMID:31412925	PMID:32369273

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000505540	CLINVAR
	RCV001266783	CLINVAR
	RCV001814174	CLINVAR
	RCV001857236	CLINVAR
	RCV002279283	CLINVAR
	RCV003900059	CLINVAR
	RCV003988848	CLINVAR
dbSNP (RS)	rs760956030	CLINVAR
MedGen	C0029464	CLINVAR
	C0950123	CLINVAR
	C1969106	CLINVAR
	C3179239	CLINVAR
	C3661900	CLINVAR
	C4021790	CLINVAR
NCBI Gene	CLCN7	CLINVAR
OMIM	166600	CLINVAR
	602727	CLINVAR
	611490	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:13435516 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13435516 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar