RGD:126756007 Rat Genome Database

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Variant: RGD:126756007 -  Homo sapiens

RGD ID: 126756007
RS ID: rs761634996
ClinVar ID: CV992966
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GDF6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 97,157,263
GRCh38 8 96,145,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001001557.4:c.896C>T
NG_008981.1:g.20758C>T
NC_000008.11:g.96145035G>A
NC_000008.10:g.97157263G>A
More... 		03/17/2020 missense variant uncertain significance CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT; Isolated microphthalmia 4; Leber congenital amaurosis 17; Microphthalmia with coloboma 6; Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated, with coloboma 6; MICROPHTHALMIA/COLOBOMA 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GDF6
Accession:NM_001001557
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDAGREGQEPQPRPQDEPRAQQP
RAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQSSKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEE
LVGAELRLFRQAPSAPWGPPAGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGEL
DAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGLAEAAGPGAGAEGSWPPPSGAP
DARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLHVNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNH
AIIQTLMNSMDPGSTPPSCCVPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001298478 CLINVAR
dbSNP (RS) rs761634996 CLINVAR
MedGen C1861689 CLINVAR
NCBI Gene GDF6 CLINVAR
OMIM 118100 CLINVAR
  601147 CLINVAR
  613094 CLINVAR
  613703 CLINVAR
  615360 CLINVAR