ClinVar

NM_000048.4(ASL):c.603-90GT[17]

Gene:

ASL:argininosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

7q11.21

Genomic location:

• Chr7: 66087244 - 66087249 (on Assembly GRCh38)
• Chr7: 65552231 - 65552236 (on Assembly GRCh37)

Preferred name:

NM_000048.4(ASL):c.603-90GT[17]

HGVS:

• NC_000007.14:g.66087244GT[17]
• NG_009288.1:g.16456GT[17]
• NM_000048.4:c.603-90GT[17]MANE SELECT
• NM_001024943.2:c.603-90GT[17]
• NM_001024944.2:c.603-90GT[17]
• NM_001024946.2:c.525-90GT[17]
• NC_000007.13:g.65552231GT[17]

This HGVS expression did not pass validation

Links:

dbSNP: rs60055215

NCBI 1000 Genomes Browser:

rs60055215

Molecular consequence:

• NM_000048.4:c.603-90GT[17] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024943.2:c.603-90GT[17] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024944.2:c.603-90GT[17] - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024946.2:c.525-90GT[17] - intron variant - [Sequence Ontology: SO:0001627]