RGD:405657120 Rat Genome Database

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Variant: RGD:405657120 -  Homo sapiens

RGD ID: 405657120
ClinVar ID: CV3288384
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MANEA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 96,044,661
GRCh38 6 95,596,785
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.593G>A
NC_000006.12:g.95596785G>A
NC_000006.11:g.96044661G>A
NM_024641.3:c.593G>A
More... 		12/19/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MANEA
Accession:NM_024641
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKFRRRTCIILALFILFIFSLMMGLKMLRPNTATFGAPFGLDLLPELHQRTIHLGKNFDFQKSDRINSETNTKNLKSVE
ITMKPSKASELNLDELPPLNNYLHVFYYSWYGNPQFDGKYIHWNHPVLEHWDPRIAKNYPQGRHNPPDDIGSSFYPELGS
YSSRDPSVIETHMRQMRSASIGVLALSWYPPDVNDENEEPTDNLVPTILDKAHKYNLKVTFHIEPYSNRDDQNMYKNVKY
IIDKYGNHPAFYRYKTKTGNALPMFYVYDSYITKPEKWANLLTTSGSRSIRNSPYDGLFIALLVEEKHKYDILQSGFDGI
YTYFATNGFTYGSSHQNWASLKLFCDKYNLIFIPSVGPGYIDTSIRPWNTQNTRNRINGKYYEIGLSAALQTRPSLISIT
SFNEWHEGTQIEKAVPKRTSNTVYLDYRPHKPGLYLELTRKWSEKYSKERATYALDRQLPVS*

Gene Symbol:MANEA
Accession:XM_005267147
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKFRRRTCIILALFILFIFSLMMGLKMLRPNTATFGAPFGLDLLPELHQRTIHLGKNFDFQKSDRINSETNTKNLKSVE
ITMKPSKASELNLDELPPLNNYLHVFYYSWYGNPQFDGKYIHWNHPVLEHWDPRIAKNYPQGRHNPPDDIGSSFYPELGS
YSSRDPSVIETHMRQMRSASIGVLALSWYPPDVNDENEEPTDNLVPTILDKAHKYNLKVTFHIEPYSNRDDQNMYKNVKY
IIDKYGNHPAFYRYKTKTGNALPMFYVYDSYITKPEKWANLLTTSGSRSIRNSPYDGLFIALLVEEKHKYDILQSGFDGI
YTYFATNGFTYGSSHQNWASLKLFCDKYNLIFIPSVGPGYIDTSIRPWNTQNTRNRINGKYYEIGLSAALQTRPSLISIT
SFNEWHEGTQIEKAVPKRTSNTVYLDYRPHKPGLYLELTRKWSEKYSKERATYALDRQLPVS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004415980 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MANEA CLINVAR
OMIM 612327 CLINVAR