ClinVar

NM_001282531.3(ADNP):c.2943G>T (p.Val981=)

Gene:

ADNP:activity dependent neuroprotector homeobox [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.13

Genomic location:

• Chr20: 50891771 (on Assembly GRCh38)
• Chr20: 49508308 (on Assembly GRCh37)

Preferred name:

NM_001282531.3(ADNP):c.2943G>T (p.Val981=)

HGVS:

• NC_000020.11:g.50891771C>A
• NG_034200.1:g.44220G>T
• NM_001282531.3:c.2943G>TMANE SELECT
• NM_001282532.2:c.2943G>T
• NM_001347511.2:c.2943G>T
• NM_015339.5:c.2943G>T
• NM_181442.4:c.2943G>T
• NP_001269460.1:p.Val981=
• NP_001269461.1:p.Val981=
• NP_001334440.1:p.Val981=
• NP_056154.1:p.Val981=
• NP_852107.1:p.Val981=
• NC_000020.10:g.49508308C>A
• NC_000020.10:g.49508308C>A
• NM_001282531.2:c.2943G>T
• NM_015339.2:c.2943G>T
• NM_015339.3:c.2943G>T
• NM_015339.5:c.2943G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs143103063

NCBI 1000 Genomes Browser:

rs143103063

Molecular consequence:

• NM_001282531.3:c.2943G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282532.2:c.2943G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001347511.2:c.2943G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015339.5:c.2943G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181442.4:c.2943G>T - synonymous variant - [Sequence Ontology: SO:0001819]