RGD:8622213 Rat Genome Database

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Variant: RGD:8622213 -  Homo sapiens

RGD ID: 8622213
RS ID: rs267607391
ClinVar ID: CV77230
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT14  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,743,068
GRCh38 17 41,586,816
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000517.3:p.Gln7Ter
NG_008624.1:g.5080C>T
NC_000017.11:g.41586816G>A
NC_000017.10:g.39743068G>A
More... 		10/01/2006 nonsense|stop-gain pathogenic|not provided Naegeli syndrome; NFJ syndrome; none provided; Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KRT14
Accession:NM_000526
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSR*FTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSF
GSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIK
DYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATN
SELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKI
LLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000056699 CLINVAR
  RCV000415603 CLINVAR
dbSNP (RS) rs267607391 CLINVAR
MedGen C0343111 CLINVAR
  CN517202 CLINVAR
NCBI Gene KRT14 CLINVAR
OMIM 148066 CLINVAR
  161000 CLINVAR
OMIM Allele 148066.0019 CLINVAR
SNOMED CT 239084001 CLINVAR