RGD:12840428 Rat Genome Database

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Variant: RGD:12840428 -  Homo sapiens

RGD ID: 12840428
RS ID: rs151294789
ClinVar ID: CV369262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASL  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 65,554,271
GRCh38 7 66,089,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009288.1:g.18496G>T
NC_000007.14:g.66089284G>T
NC_000007.13:g.65554271G>T
NP_000039.2:p.Gly309=
More... 		03/04/2019 intron variant benign|likely benign Arginino succinase deficiency; Argininosuccinate acidemia; Argininosuccinic acid lyase deficiency; Argininosuccinic Aciduria; ASA deficiency; ASL deficiency; Inborn error of urea synthesis, arginino succinic type; none provided; Urea cycle disorder, arginino succinase type
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ASL
Accession:NM_000048
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 309
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFK
LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH
LQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA
EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPST
YNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAET
KGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:ASL
Accession:NM_001024943
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 309
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFK
LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH
LQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA
EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPST
YNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAET
KGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:ASL
Accession:NM_001024946
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAEMDQILHGLDKVAEEWAQGTFK
LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH
LQRAQPIRWSHWILSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTK
EFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVA
TGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLFSGDVIC
VWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:ASL
Accession:NM_001024944
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000876074 CLINVAR
  RCV001721345 CLINVAR
  RCV003902591 CLINVAR
dbSNP (RS) rs151294789 CLINVAR
MedGen C0268547 CLINVAR
  C3661900 CLINVAR
NCBI Gene ASL CLINVAR
OMIM 207900 CLINVAR
  608310 CLINVAR
SNOMED CT 41013004 CLINVAR