ClinVar

NM_000048.4(ASL):c.1063-12C>T

Gene:

ASL:argininosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.21

Genomic location:

• Chr7: 66091994 (on Assembly GRCh38)
• Chr7: 65556981 (on Assembly GRCh37)

Preferred name:

NM_000048.4(ASL):c.1063-12C>T

HGVS:

• NC_000007.14:g.66091994C>T
• NG_009288.1:g.21206C>T
• NM_000048.4:c.1063-12C>TMANE SELECT
• NM_001024943.2:c.1063-12C>T
• NM_001024944.2:c.1003-12C>T
• NM_001024946.2:c.985-12C>T
• NC_000007.13:g.65556981C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000048.4:c.1063-12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024943.2:c.1063-12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024944.2:c.1003-12C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024946.2:c.985-12C>T - intron variant - [Sequence Ontology: SO:0001627]