RGD:11630224 Rat Genome Database

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Variant: RGD:11630224 -  Homo sapiens

RGD ID: 11630224
RS ID: rs147528904
ClinVar ID: CV351742
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126863160  NAGA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 42,464,570
GRCh38 22 42,068,566
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_009247.1:g.7277C>T
NC_000022.11:g.42068566G>A
NC_000022.10:g.42464570G>A
NP_000253.1:p.Leu9=
More... 		09/01/2021 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance <1 / 1 000 000 Alpha-N-acetylgalactosaminidase deficiency adult onset; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II; Kanzaki disease; NAGA deficiency type 2; NAGA deficiency, type 1; NAGA DEFICIENCY, TYPE I; NAGA DEFICIENCY, TYPE II; Neuroaxonal dystrophy, Schindler type; none provided; Schindler disease type 2; Schindler disease, type 1; SCHINDLER DISEASE, TYPE I; SCHINDLER DISEASE, TYPE II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NAGA
Accession:NM_000262
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDMGYTYLNIDDC
WIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFS
TPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQ
PVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKE
KSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYL
YPIKNLEMSQQ*

Gene Symbol:NAGA
Accession:NM_001362848
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDMGYTYLNIDDC
WIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFS
TPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQ
PVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKE
KSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYL
YPIKNLEMSQQ*

Gene Symbol:NAGA
Accession:NM_001362850
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 9
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMADRMAQDGWRDMGYTYLNIDDC
WIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYADMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFS
TPEERAQGYPKMAAALNATGRPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQ
PVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNPLMIKINQDPLGIQGRRIHKE
KSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNFTGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYL
YPIKNLEMSQQ*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000344634 CLINVAR
  RCV000406276 CLINVAR
  RCV001726136 CLINVAR
  RCV003972441 CLINVAR
dbSNP (RS) rs147528904 CLINVAR
MedGen C1836522 CLINVAR
  C1836544 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC126863160 CLINVAR
  NAGA CLINVAR
OMIM 104170 CLINVAR
  609241 CLINVAR
  609242 CLINVAR