ClinVar

NM_019032.6(ADAMTSL4):c.1111C>T (p.Leu371=)

Genes:

ADAMTSL4:ADAMTS like 4 [Gene - OMIM - HGNC]
ADAMTSL4-AS2:ADAMTSL4 antisense RNA 2 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.2

Genomic location:

• Chr1: 150554102 (on Assembly GRCh38)
• Chr1: 150526578 (on Assembly GRCh37)

Preferred name:

NM_019032.6(ADAMTSL4):c.1111C>T (p.Leu371=)

HGVS:

• NC_000001.11:g.150554102C>T
• NG_012172.1:g.9681C>T
• NM_001288607.2:c.1111C>T
• NM_001288608.2:c.1111C>T
• NM_001378596.1:c.1111C>T
• NM_019032.6:c.1111C>TMANE SELECT
• NM_025008.5:c.1111C>T
• NP_001275536.1:p.Leu371=
• NP_001275537.1:p.Leu371=
• NP_001365525.1:p.Leu371=
• NP_061905.2:p.Leu371=
• NP_079284.2:p.Leu371=
• NC_000001.10:g.150526578C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001288607.2:c.1111C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288608.2:c.1111C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378596.1:c.1111C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019032.6:c.1111C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_025008.5:c.1111C>T - synonymous variant - [Sequence Ontology: SO:0001819]