ClinVar

NM_019032.6(ADAMTSL4):c.1956C>T (p.Pro652=)

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: 150557244 (on Assembly GRCh38)
• Chr1: 150529720 (on Assembly GRCh37)

Preferred name:

NM_019032.6(ADAMTSL4):c.1956C>T (p.Pro652=)

HGVS:

• NC_000001.11:g.150557244C>T
• NG_012172.1:g.12823C>T
• NM_001288607.2:c.1857-18C>T
• NM_001288608.2:c.2025C>T
• NM_001378596.1:c.1956C>T
• NM_019032.6:c.1956C>TMANE SELECT
• NM_025008.5:c.1956C>T
• NP_001275537.1:p.Pro675=
• NP_001365525.1:p.Pro652=
• NP_061905.2:p.Pro652=
• NP_061905.2:p.Pro652=
• NP_079284.2:p.Pro652=
• NC_000001.10:g.150529720C>T
• NC_000001.10:g.150529720C>T
• NM_019032.5:c.1956C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs77184517

NCBI 1000 Genomes Browser:

rs77184517

Molecular consequence:

• NM_001288607.2:c.1857-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288608.2:c.2025C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378596.1:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019032.6:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_025008.5:c.1956C>T - synonymous variant - [Sequence Ontology: SO:0001819]