RGD:13832639 Rat Genome Database

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Variant: RGD:13832639 -  Homo sapiens

RGD ID: 13832639
RS ID: rs765379963
ClinVar ID: CV590035
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMCO1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 165,712,409
GRCh38 1 165,743,172
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019026.4:c.616C>T
NG_032004.1:g.30751C>T
NC_000001.11:g.165743172G>A
NP_061899.2:p.Arg206Ter
More... 		09/08/2020 non-coding transcript variant|nonsense pathogenic|likely pathogenic Abnormal sternum morphology; Abnormality of the sternum; Autistic disorder; Autistic disorder of childhood onset; Bilateral cleft lip; Bilateral cleft lip and palate; Bilateral cleft palate; Cerebrofaciothoracic dysplasia; Cleft hard and soft palate; Cleft palate; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome; Cryptorchidism; Cryptorchidism, unilateral or bilateral; Delayed speech and language development; Global developmental delay; Hemivertebrae; Pulmonic stenosis; Pulmonic stenosis (disease); Relative macrocephaly; Renal agenesis; Rib fusion; Scoliosis; Sensorineural hearing impairment; Sensorineural hearing loss; sensorineural hearing loss disorder; Severe visual impairment; Severely reduced visual acuity; solitary kidney; Strabismus; undescended testicle; Unilateral renal agenesis

Variant Details
Variant Transcripts
Gene Symbol:TMCO1
Accession:NM_019026
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTMFADTLLIVFISVCTALLAEGITWVLVYRTDKYKRLKAEVEKQSKKLEKKKETITESAGRQQKKKIERQEEKLKNNN
RDLSMVRMKSMFAIGFCFTALMGMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSI*QNIQK
ILGLAPSRAATKQAGGFLGPPPPSGKFS*

Gene Symbol:TMCO1
Accession:NM_001256164
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRKRKCDLRAVRVGLLLGGGGVYGSRFRFTFPGCRALSPWRVRVQRRRTDKYKRLKAEVEKQSKKLEKKKETITESAGR
QQKKKIERQEEKLKNNNRDLSMVRMKSMFAIGFCFTALMGMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSF
IFLYILCTMSI*QNIQKILGLAPSRAATKQAGGFLGPPPPSGKFS*

Gene Symbol:TMCO1
Accession:NM_001256165
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESIAEFSLVSGITWVLVYRTDKYKRLKAEVEKQSKKLEKKKETITESAGRQQKKKIERQEEKLKNNNRDLSMVRMKSMF
AIGFCFTALMGMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSI*QNIQKILGLAPSRAATK
QAGGFLGPPPPSGKFS*

Gene Symbol:TMCO1
Accession:NR_045818
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:30755392   PMID:31102500   PMID:32214227  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000735317 CLINVAR
  RCV001030791 CLINVAR
  RCV003156117 CLINVAR
  RCV003389727 CLINVAR
dbSNP (RS) rs765379963 CLINVAR
MedGen C0004352 CLINVAR
  C1859252 CLINVAR
  C5677021 CLINVAR
NCBI Gene TMCO1 CLINVAR
OMIM 209850 CLINVAR
  213980 CLINVAR
  219050 CLINVAR
  265500 CLINVAR
  614123 CLINVAR
OMIM Allele 614123.0003 CLINVAR
SNOMED CT 408856003 CLINVAR