ClinVar

NM_019032.6(ADAMTSL4):c.1938G>T (p.Val646=)

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: 150557226 (on Assembly GRCh38)
• Chr1: 150529702 (on Assembly GRCh37)

Preferred name:

NM_019032.6(ADAMTSL4):c.1938G>T (p.Val646=)

HGVS:

• NC_000001.11:g.150557226G>T
• NG_012172.1:g.12805G>T
• NM_001288607.2:c.1857-36G>T
• NM_001288608.2:c.2007G>T
• NM_001378596.1:c.1938G>T
• NM_019032.6:c.1938G>TMANE SELECT
• NM_025008.5:c.1938G>T
• NP_001275537.1:p.Val669=
• NP_001365525.1:p.Val646=
• NP_061905.2:p.Val646=
• NP_079284.2:p.Val646=
• NC_000001.10:g.150529702G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001288607.2:c.1857-36G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288608.2:c.2007G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378596.1:c.1938G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019032.6:c.1938G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_025008.5:c.1938G>T - synonymous variant - [Sequence Ontology: SO:0001819]