RGD:155934160 Rat Genome Database

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Variant: RGD:155934160 -  Homo sapiens

RGD ID: 155934160
ClinVar ID: CV2229095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MANEA  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 96,054,159
GRCh38 6 95,606,283
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024641.4:c.1267G>C
NC_000006.12:g.95606283G>C
NC_000006.11:g.96054159G>C
NM_024641.3:c.1267G>C
More... 		07/20/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MANEA
Accession:NM_024641
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKFRRRTCIILALFILFIFSLMMGLKMLRPNTATFGAPFGLDLLPELHQRTIHLGKNFDFQKSDRINSETNTKNLKSVE
ITMKPSKASELNLDELPPLNNYLHVFYYSWYGNPQFDGKYIHWNHPVLEHWDPRIAKNYPQGRHNPPDDIGSSFYPELGS
YSSRDPSVIETHMRQMRSASIGVLALSWYPPDVNDENGEPTDNLVPTILDKAHKYNLKVTFHIEPYSNRDDQNMYKNVKY
IIDKYGNHPAFYRYKTKTGNALPMFYVYDSYITKPEKWANLLTTSGSRSIRNSPYDGLFIALLVEEKHKYDILQSGFDGI
YTYFATNGFTYGSSHQNWASLKLFCDKYNLIFIPSVGPGYIDTSIRPWNTQNTRNRINGKYYEIGLSAALQTRPSLISIT
SFNEWHEGTQIEKAVPKRTSNTLYLDYRPHKPGLYLELTRKWSEKYSKERATYALDRQLPVS*

Gene Symbol:MANEA
Accession:XM_005267147
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 423
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKFRRRTCIILALFILFIFSLMMGLKMLRPNTATFGAPFGLDLLPELHQRTIHLGKNFDFQKSDRINSETNTKNLKSVE
ITMKPSKASELNLDELPPLNNYLHVFYYSWYGNPQFDGKYIHWNHPVLEHWDPRIAKNYPQGRHNPPDDIGSSFYPELGS
YSSRDPSVIETHMRQMRSASIGVLALSWYPPDVNDENGEPTDNLVPTILDKAHKYNLKVTFHIEPYSNRDDQNMYKNVKY
IIDKYGNHPAFYRYKTKTGNALPMFYVYDSYITKPEKWANLLTTSGSRSIRNSPYDGLFIALLVEEKHKYDILQSGFDGI
YTYFATNGFTYGSSHQNWASLKLFCDKYNLIFIPSVGPGYIDTSIRPWNTQNTRNRINGKYYEIGLSAALQTRPSLISIT
SFNEWHEGTQIEKAVPKRTSNTLYLDYRPHKPGLYLELTRKWSEKYSKERATYALDRQLPVS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004098865 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MANEA CLINVAR
OMIM 612327 CLINVAR