RGD:401739348 Rat Genome Database

RGD ID:

401739348

ClinVar ID:

CV2722111

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	14	36,302,188
GRCh38	14	35,832,982

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000014.8:g.36302188T>C NM_032352.3:c.238T>C NP_115728.2:p.Tyr80His NM_032352.4:c.238T>C NC_000014.9:g.35832982T>C More...	05/30/2023	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	BRMS1L
Accession:	XM_047431806
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	32

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDEDCERRRMECLDEMSNLEKQFTDLKDQLHKERLSQVDAKLQEVIAGKAPEYLEPLATLQENMQIRTKVAGIYRELCL ESVKNKYECEIQASRQHCESEKLLLYDTVQSELEEKIRRLEEDRHSIDITSELWNDELQSRKKRKDPFSPDKKKPVVVSG PYIVYMLQDLDILEDWTTIRKAMATLGPHRVKTELFELIPLAPVKLEKHLHSARSEEGRLYYDGEWYIRGQTICIDKKDE CPTSAVITTINHDEVWFKRPDGSKSKLYISQLQKGKYSIKHS*

Gene Symbol:	BRMS1L
Accession:	XM_005268128
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	80

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPVHSRGDKKETNHHDEMEVDYAENEGSSSEDEDTESSSVSEDGDSSEMDDEDCERRRMECLDEMSNLEKQFTDLKDQLH KERLSQVDAKLQEVIAGKAPEYLEPLATLQENMQIRTKVAGIYRELCLESVKNKYECEIQASRQHCESEKLLLYDTVQSE LEEKIRRLEEDRHSIDITSELWNDELQSRKKRKDPFSPDKKKPVVVSGPYIVYMLQDLDILEDWTTIRKAMATLGPHRVK TELFELIPLAPVKLEKHLHSARSEEGRLYYDGEWYIRGQTICIDKKDECPTSAVITTINHDEVWFKRPDGSKSKLYISQL QKGKYSIKHS*

Gene Symbol:	BRMS1L
Accession:	XM_017021705
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	32

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDEDCERRRMECLDEMSNLEKQFTDLKDQLHKERLSQVDAKLQEVIAGKAPEYLEPLATLQENMQIRTKVAGIYRELCL ESVKNKYECEIQASRQHCESEKLLLYDTVQSELEEKIRRLEEDRHSIDITSELWNDELQSRKKRKDPFSPDKKKPVVVSG PYIVYMLQDLDILEDWTTIRKAMATLGPHRVKTEPPVKLEKHLHSARSEEGRLYYDGEWYIRGQTICIDKKDECPTSAVI TTINHDEVWFKRPDGSKSKLYISQLQKGKYSIKHS*

Gene Symbol:	BRMS1L
Accession:	NM_032352
Location:	EXON
Amino Acid Prediction:	Y to H (nonsynonymous)
Amino Acid Position:	80

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPVHSRGDKKETNHHDEMEVDYAENEGSSSEDEDTESSSVSEDGDSSEMDDEDCERRRMECLDEMSNLEKQFTDLKDQLH KERLSQVDAKLQEVIAGKAPEYLEPLATLQENMQIRTKVAGIYRELCLESVKNKYECEIQASRQHCESEKLLLYDTVQSE LEEKIRRLEEDRHSIDITSELWNDELQSRKKRKDPFSPDKKKPVVVSGPYIVYMLQDLDILEDWTTIRKAMATLGPHRVK TEPPVKLEKHLHSARSEEGRLYYDGEWYIRGQTICIDKKDECPTSAVITTINHDEVWFKRPDGSKSKLYISQLQKGKYSI KHS*

Variant Samples

Additional Information

External Database Links

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)

Send us a Message