RGD:156268829 Rat Genome Database

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Variant: RGD:156268829 -  Homo sapiens

RGD ID: 156268829
ClinVar ID: CV2314866
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAAA  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 76,842,118
GRCh38 4 75,920,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042402.2:c.825T>A
NM_001363719.2:c.825T>A
NM_014435.4:c.825T>A
NC_000004.12:g.75920965A>T
More... 		11/07/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NAAA
Accession:NM_001042402
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQ*

Gene Symbol:NAAA
Accession:XM_011531854
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQFF*

Gene Symbol:NAAA
Accession:NM_014435
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQILSVVPVYNNFTIYTTVMSAGSPDKYMTRIRNPSRK*

Gene Symbol:NAAA
Accession:XM_005262924
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQMIF*

Gene Symbol:NAAA
Accession:XM_011531852
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQILSVVPVYNKLFPLAEFPEVGLLS*

Gene Symbol:NAAA
Accession:NM_001363719
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQ*

Gene Symbol:NAAA
Accession:XM_017008029
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQILSVVPVYNNESRPGAVAHACNPSPLGGQGGWIT*

Gene Symbol:NAAA
Accession:XM_006714180
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQILSVVPVYNNEQEEPIR*

Gene Symbol:NAAA
Accession:XM_005262921
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQILSVVPVYNNFFR*

Gene Symbol:NAAA
Accession:XM_005262923
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQILSVVPVYNK*

Gene Symbol:NAAA
Accession:XM_017008030
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQLHNLYYGNERR*

Gene Symbol:NAAA
Accession:XM_017008028
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQILSVVPVYNNFTIYTTVMSAGSPDKYMTRIRNPSRK*

Gene Symbol:NAAA
Accession:XM_047450067
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTADREARPGLPSLLLLLLAGAGLSAASPPAAPRFNVSLDSVPELRWLPVLRHYDLDLVRAAMAQVIGDRVPKWVHVLI
GKVVLELERFLPQPFTGEIRGMCDFMNLSLADCLLVNLAYESSVFCTSIVAQDSRGHIYHGRNLDYPFGNVLRKLTVDVQ
FLKNGQIAFTGTTFIGYVGLWTGQSPHKFTVSGDERDKGWWWENAIAALFRRHIPVSWLIRATLSESENFEAAVGKLAKT
PLIADVYYIVGGTSPREGVVITRNRDGPADIWPLEPLNGAWFRVETNYDHWKPAPKEDDRRTSAIKALNATGQANLSLEA
LFQLHNLYYGNERR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004170984 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NAAA CLINVAR
OMIM 607469 CLINVAR