ClinVar

NM_000026.4(ADSL):c.1368+10C>T

Gene:

ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 40365066 (on Assembly GRCh38)
• Chr22: 40761070 (on Assembly GRCh37)

Preferred name:

NM_000026.4(ADSL):c.1368+10C>T

HGVS:

• NC_000022.11:g.40365066C>T
• NG_007993.2:g.23567C>T
• NM_000026.4:c.1368+10C>TMANE SELECT
• NM_001123378.3:c.1191+701C>T
• NM_001317923.2:c.1176+10C>T
• NM_001363840.3:c.1368+10C>T
• NC_000022.10:g.40761070C>T
• NM_000026.2:c.1368+10C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1330219053

NCBI 1000 Genomes Browser:

rs1330219053

Molecular consequence:

• NM_000026.4:c.1368+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001123378.3:c.1191+701C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317923.2:c.1176+10C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363840.3:c.1368+10C>T - intron variant - [Sequence Ontology: SO:0001627]