RGD:156377354 Rat Genome Database

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Variant: RGD:156377354 -  Homo sapiens

RGD ID: 156377354
ClinVar ID: CV2207048
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 45,702,897
GRCh38 20 47,074,258
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005244.5:c.584C>T
NM_172110.4:c.584C>T
NG_011673.2:g.184389C>T
NC_000020.11:g.47074258C>T
More... 		05/16/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EYA2
Accession:NM_005244
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQ
ATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVH
QDYPSYPGFPQSQYPQYYGSSYNPPYVPASSICPLPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDR
PHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNLADTHL
FFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGG
LIGTPKRETWLQLRAELEALTDLWLTHSLKALNLINSRPNCVNVLVTTTQLIPALAKVLLYGLGSVFPIENIYSATKTGK
ESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHADLEALRHALELEYL*

Gene Symbol:EYA2
Accession:XM_047440010
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQ
ATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVH
QDYPSYPGFPQSQYPQYYGSSYNPPYVPASSICPLPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDR
PHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNLADTHL
FFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGG
LIGTPKRETWLQLRAELEALTDLWLTHSLKALNLINSRPNCVNVLVTTTQLIPALAKVLLYGLGSVFPIENIYSATKTGK
ESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHADLEALRHALELEYL*

Gene Symbol:EYA2
Accession:NM_172110
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQ
ATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVH
QDYPSYPGFPQSQYPQYYGSSYNPPYVPASSICPLPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDR
PHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTTSVRIGLMMEEMIFNLADTHL
FFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGG
KESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHADLEALRHALELEYL*

Gene Symbol:EYA2
Accession:XM_017027721
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYSAGIQQ
ATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGLGNAAGFGSVH
QDYPSYPGFPQSQYPQYYGSSYNPPYVPASSICPLPLSTSTYVLQEASHNVPNQSSESLAGEYNTHNGPSTPAKEGDTDR
PHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDCDQIHVDDVSSDDNGQDLSTYNF
SADGFHSSAPGANLCLGSGVHGGVDWMRKLAFRYRRVKEMYNTYKNNVGGLIGTPKRETWLQLRAELEALTDLWLTHSLK
ALNLINSRPNCVNVLVTTTQLIPALAKVLLYGLGSVFPIENIYSATKTGKESCFERIMQRFGRKAVYVVIGDGVEEEQGA
KKHNMPFWRISCHADLEALRHALELEYL*

Gene Symbol:EYA2
Accession:XM_005260327
Location:INTRON

.
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004085660 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EYA2 CLINVAR
OMIM 601654 CLINVAR