RGD:28909433 Rat Genome Database

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Variant: RGD:28909433 -  Homo sapiens

RGD ID: 28909433
RS ID: rs142863092
ClinVar ID: CV867336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NECTIN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 119,548,369
GRCh38 11 119,677,659
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002855.5:c.629G>A
NM_203285.2:c.629G>A
NM_203286.2:c.629G>A
NM_002855.4:c.629G>A
More...
10/25/2022 missense variant benign|uncertain significance ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY; ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE; ECTODERMAL DYSPLASIA, TYPE 4; none provided; Zlotogora syndrome; Zlotogora-Ogur syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NECTIN1
Accession:NM_203285
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSVKITQVTWQKSTNGSKQNVAI
YNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEGVYICEFATFPTGNRESQLNLTVMAKPTNWIEGTQAVLRAK
KGQDDKVLVATCTSANGKPPSVVSWETRLKGEAEYQEIRNPNGTVTVISHYRLVPSREAHQQSLACIVNYHMDRFKESLT
LNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEYHWTTLNGSLPKGVEAQNRTLFFKGPINYSLAGTYICEATN
PIGTRSGQVEVNITEKPRPQRGLGSAARLLAGTVAVFLILVAVLTVFFLYNRQQKSPPETDGAGTDQPLSQKPEPSPSRQ
SSLVPEDIQVVHLDPGRQQQQEEEDLQKLSLQPPYYDLGVSPSYHPSVRTTEPRGECP*

Gene Symbol:NECTIN1
Accession:NM_002855
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSVKITQVTWQKSTNGSKQNVAI
YNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEGVYICEFATFPTGNRESQLNLTVMAKPTNWIEGTQAVLRAK
KGQDDKVLVATCTSANGKPPSVVSWETRLKGEAEYQEIRNPNGTVTVISHYRLVPSREAHQQSLACIVNYHMDRFKESLT
LNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEYHWTTLNGSLPKGVEAQNRTLFFKGPINYSLAGTYICEATN
PIGTRSGQVEVNITEFPYTPSPPEHGRRAGPVPTAIIGGVAGSILLVLIVVGGIVVALRRRRHTFKGDYSTKKHVYGNGY
SKAGIPQHHPPMAQNLQYPDDSDDEKKAGPLGGSSYEEEEEEEEGGGGGERKVGGPHPKYDEDAKRPYFTVDEAEARQDG
YGDRTLGYQYDPEQLDLAENMVSQNDGSFISKKEWYV*

Gene Symbol:NECTIN1
Accession:NM_203286
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARMGLAGAAGRWWGLALGLTAFFLPGVHSQVVQVNDSMYGFIGTDVVLHCSFANPLPSVKITQVTWQKSTNGSKQNVAI
YNPSMGVSVLAPYRERVEFLRPSFTDGTIRLSRLELEDEGVYICEFATFPTGNRESQLNLTVMAKPTNWIEGTQAVLRAK
KGQDDKVLVATCTSANGKPPSVVSWETRLKGEAEYQEIRNPNGTVTVISHYRLVPSREAHQQSLACIVNYHMDRFKESLT
LNVQYEPEVTIEGFDGNWYLQRMDVKLTCKADANPPATEYHWTTLNGSLPKGVEAQNRTLFFKGPINYSLAGTYICEATN
PIGTRSGQVEVNITAFCQLIYPGKGRTRARMF*

Variant Samples
Additional References at PubMed
PMID:16674562   PMID:17089422   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001108368 CLINVAR
  RCV002556120 CLINVAR
dbSNP (RS) rs142863092 CLINVAR
MedGen C2931488 CLINVAR
  C3661900 CLINVAR
NCBI Gene NECTIN1 CLINVAR
OMIM 225060 CLINVAR
  600644 CLINVAR