RGD:152980488 Rat Genome Database

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Variant: RGD:152980488 -  Homo sapiens

RGD ID: 152980488
RS ID: rs745594354
ClinVar ID: CV1678639
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NANS  TRIM14  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 100,843,101
GRCh38 9 98,080,819
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018946.4:c.607T>C
NP_061819.2:p.Tyr203His
NC_000009.11:g.100843101T>C
NG_052789.1:g.29143T>C
More...
05/10/2022 missense variant likely pathogenic NANS DEFICIENCY; SEMD Genevieve type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRIM14
Accession:XM_017015353
Location:3UTRS;INTRON

Gene Symbol:TRIM14
Accession:XM_047424162
Location:3UTRS;INTRON

Gene Symbol:TRIM14
Accession:XM_047424161
Location:3UTRS;INTRON

Gene Symbol:TRIM14
Accession:XM_047424160
Location:3UTRS;INTRON

Gene Symbol:NANS
Accession:NM_018946
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLELELCPGRWVGGQHPCFIIAEIGQNHQGDLDVAKRMIRMAKECGADCAKFQKSELEFKFNRKALERPYTSKHSWGKT
YGEHKRHLEFSHDQYRELQRYAEEVGIFFTASGMDEMAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQ
SMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVNLRVISEHQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHIT
LDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPK
GYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS*

Gene Symbol:NANS
Accession:XM_011518787
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVN
LRVISEHQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAELVRSVRLVERALGSP
TKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKK
IKS*

Gene Symbol:NANS
Accession:XM_011518788
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHFSKLDLETLIIFLIWKRQPKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVNLRVISEHQK
LFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAELVRSVRLVERALGSPTKQLLPCEM
ACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKKIKS*

Gene Symbol:NANS
Accession:XM_047423476
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVEFLHELNVPFFKVGSGDTNNFPYLEKTAKKGRPMVISSGMQSMDTMKQVYQIVKPLNPNFCFLQCTSAYPLQPEDVN
LRVISEHQKLFPDIPIGYSGHETGIAISVAAVALGAKVLERHITLDKTWKGSDHSASLEPGELAELVRSVRLVERALGSP
TKQLLPCEMACNEKLGKSVVAKVKIPEGTILTMDMLTVKVGEPKGYPPEDIFNLVGKKVLVTVEEDDTIMEELVDNHGKK
IKS*

Gene Symbol:TRIM14
Accession:NM_014788
Location:INTRON

Gene Symbol:TRIM14
Accession:NM_033219
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_005252320
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_011519244
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_047424163
Location:INTRON

Gene Symbol:TRIM14
Accession:XM_047424164
Location:INTRON

Gene Symbol:TRIM14
Accession:XR_929880
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:34163424  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002247147 CLINVAR
dbSNP (RS) rs745594354 CLINVAR
MedGen C1864872 CLINVAR
NCBI Gene NANS CLINVAR
  TRIM14 CLINVAR
OMIM 605202 CLINVAR
  606556 CLINVAR
  610442 CLINVAR