RGD:12739007 Rat Genome Database

Variant: RGD:12739007 - Homo sapiens

RGD ID:

12739007

RS ID:

rs773690764

ClinVar ID:

CV360934

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IGHMBP2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	68,685,249
GRCh38	11	68,917,781

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
LRG_250t1:c.958C>T LRG_250:g.18931C>T NG_007976.1:g.18931C>T NC_000011.10:g.68917781C>T More...	03/17/2024	nonsense	pathogenic\|likely pathogenic\|uncertain significance	Charcot-Marie-Tooth disease axonal type 2S; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S; Charcot-Marie-Tooth Neuropathy; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S; Difficulty walking; HMN VI; Inability to walk; Lower limb muscle weakness; NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VI; Neuronopathy, distal hereditary motor, type VI; Neuronopathy, severe infantile axonal, with respiratory failure; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1; Progressive muscle weakness; Severe infantile axonal neuropathy with respiratory failure; Spinal muscular atrophy with respiratory distress 1; SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC

Disease Annotations Click to see Annotation Detail View

autosomal recessive distal hereditary motor neuronopathy 1 (IAGP)

Charcot-Marie-Tooth disease (IAGP)

Charcot-Marie-Tooth disease axonal type 2S (IAGP)

Mobility Limitation (IAGP)

Muscle Weakness (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Difficulty walking (IAGP)

Hammertoe (IAGP)

Inability to walk (IAGP)

Lower limb muscle weakness (IAGP)

Progressive muscle weakness (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	IGHMBP2
Accession:	XM_017017670
Location:	5UTRS;EXON

Gene Symbol:	IGHMBP2
Accession:	NM_002180
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	320

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPS NSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHS GPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNF* NEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGD HKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELE IKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVAVTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAF EYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGV ESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAGTG GPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTE EDFEALVSAAVKADNTCGFAKCTAGVTTLGQFCQLCSRRYCLSHHLPEIHGCGERARAHARQRISREGVLYAGSGTKNGS LDPAKRAQLQRRLDKKLSELSNQRTSRRKERGT*

Gene Symbol:	IGHMBP2
Accession:	XM_017017671
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	320

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPS NSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHS GPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNF* NEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGD HKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQAP*

Gene Symbol:	IGHMBP2
Accession:	XM_047426881
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	320

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPS NSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHS GPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNF* NEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGD HKQLPPTTVSHKAALAGLSLSLMERLAEEYGARVVRTLTVQYRMHQAIMRWASDTMYLGQLTAHSSVARHLLRDLPGVAA TEETGVPLLLVDTAGCGLFELEEEDEQSKGNPGEVRLVSLHIQALVDAGVPARDIAVVSPYNLQVDLLRQSLVHRHPELE IKSVDGFQGREKEAVILSFVRSNRKGEVGFLAEDRRINVAVTRARRHVAVICDSRTVNNHAFLKTLVEYFTQHGEVRTAF EYLDDIVPENYSHENSQGSSHAATKPQGPATSTRTGSQRQEGGQEAAAPARQGRKKPAGKSLASEAPSQPSLNGGSPEGV ESQDGVDHFRAMIVEFMASKKMQLEFPPSLNSHDRLRVHQIAEEHGLRHDSSGEGKRRFITVSKRAPRPRAALGPPAGTG GPAPLQPVPPTPAQTEQPPREQRGPDQPDLRTLHLERLQRVRSAQGQPASKEQQASGQQKLPEKKKKKAKGHPATDLPTE EDFEALVSAAVKADNTCGFAKCTAGVTTLGQFCQLCSRRYCLSHHLPEGRWEAEPPARHLSWPWPGCCVIHSLSRG*

Gene Symbol:	IGHMBP2
Accession:	XM_005273976
Location:	EXON
Amino Acid Prediction:	R to * (nonsynonymous)
Amino Acid Position:	320

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASAAVESFVTKQLDLLELERDAEVEERRSWQENISLKELQSRGVCLLKLQVSSQRTGLYGRLLVTFEPRRYGSAAALPS NSFTSGDIVGLYDAANEGSQLATGILTRVTQKSVTVAFDESHDFQLSLDRENSYRLLKLANDVTYRRLKKALIALKKYHS GPASSLIEVLFGRSAPSPASEIHPLTFFNTCLDTSQKEAVLFALSQKELAIIHGPPGTGKTTTVVEIILQAVKQGLKVLC CAPSNIAVDNLVERLALCKQRILRLGHPARLLESIQQHSLDAVLARSDSAQIVADIRKDIDQVFVKNKKTQDKREKSNF* NEIKLLRKELKEREEAAMLESLTSANVVLATNTGASADGPLKLLPESYFDVVVIDECAQALEASCWIPLLKARKCILAGD HKQLPPTTVSHNLQSVDTSLDGGHWAETQQTMVLPCGDTGALMQWPGPGCPGGDTGVLMRWPGPGCPGGDTGALMQWPGP GCLGGESAARPPSPPLTSPHTTQHSLLQPHRPRWPLCLDHSCLGVAGVPSLQMNPLHGIP*

Gene Symbol:	IGHMBP2
Accession:	XM_005273975
Location:	INTRON

Gene Symbol:	IGHMBP2
Accession:	XM_011544994
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:14506069	PMID:14681881	PMID:25439726	PMID:25568292	PMID:25741868	PMID:25741915	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000415032	CLINVAR
	RCV000789659	CLINVAR
	RCV002521458	CLINVAR
	RCV003987526	CLINVAR
dbSNP (RS)	rs773690764	CLINVAR
MedGen	C0007959	CLINVAR
	C1136179	CLINVAR
	C1858517	CLINVAR
NCBI Gene	IGHMBP2	CLINVAR
OMIM	600502	CLINVAR
	604320	CLINVAR
	616155	CLINVAR
SNOMED CT	50548001	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:12739007 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:12739007 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar