RGD:11059995 Rat Genome Database

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Variant: RGD:11059995 -  Homo sapiens

RGD ID: 11059995
RS ID: rs869312985
ClinVar ID: CV226851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 65,546,952
GRCh38 7 66,081,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009288.1:g.11177G>A
NC_000007.14:g.66081965G>A
NC_000007.13:g.65546952G>A
NP_000039.2:p.Glu59Lys
More... 		10/11/2018 missense variant pathogenic|likely pathogenic all ages|neonatal 1-9 / 1 000 000|1-9 / 100 000 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: E to K (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAKMDQILHGLDKVAEEWAQGTFK
LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH
LQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA
EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPST
YNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAET
KGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:ASL
Accession:NM_001024944
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAKMDQILHGLDKVAEEWAQGTFK
LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH
LQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA
EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGREDKEAVFEVSDTMS
AVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLF
SGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:ASL
Accession:NM_001024943
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAKMDQILHGLDKVAEEWAQGTFK
LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH
LQRAQPIRWSHWILSHAVALTRDSERLLEVRKRINVLPLGSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVA
EFLFWASLCMTHLSRMAEDLILYCTKEFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPST
YNKDLQEDKEAVFEVSDTMSAVLQVATGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAET
KGVALNQLSLQELQTISPLFSGDVICVWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*

Gene Symbol:ASL
Accession:NM_001024946
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASESGKLWGGRFVGAVDPIMEKFNASIAYDRHLWEVDVQGSKAYSRGLEKAGLLTKAKMDQILHGLDKVAEEWAQGTFK
LNSNDEDIHTANERRLKELIGATAGKLHTGRSRNDQVVTDLRLWMRQTCSTLSGLLWELIRTMVDRAEAERDVLFPGYTH
LQRAQPIRWSHWILSGAIAGNPLGVDRELLRAELNFGAITLNSMDATSERDFVAEFLFWASLCMTHLSRMAEDLILYCTK
EFSFVQLSDAYSTGSSLMPQKKNPDSLELIRSKAGRVFGRCAGLLMTLKGLPSTYNKDLQEDKEAVFEVSDTMSAVLQVA
TGVISTLQIHQENMGQALSPDMLATDLAYYLVRKGMPFRQAHEASGKAVFMAETKGVALNQLSLQELQTISPLFSGDVIC
VWDYGHSVEQYGALGGTARSSVDWQIRQVRALLQAQQA*
Variant Samples
Additional References at PubMed
PMID:12384776   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210603 CLINVAR
  RCV000489282 CLINVAR
dbSNP (RS) rs869312985 CLINVAR
MedGen C0268547 CLINVAR
  C3661900 CLINVAR
NCBI Gene ASL CLINVAR
OMIM 207900 CLINVAR
  608310 CLINVAR
SNOMED CT 41013004 CLINVAR