ClinVar

NM_001282531.3(ADNP):c.3302A>G (p.Gln1101Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.13

Genomic location:

• Chr20: 50891412 (on Assembly GRCh38)
• Chr20: 49507949 (on Assembly GRCh37)

Preferred name:

NM_001282531.3(ADNP):c.3302A>G (p.Gln1101Arg)

HGVS:

• NC_000020.11:g.50891412T>C
• NG_034200.1:g.44579A>G
• NM_001282531.3:c.3302A>GMANE SELECT
• NM_001282532.2:c.3302A>G
• NM_001347511.2:c.3302A>G
• NM_015339.5:c.3302A>G
• NM_181442.4:c.3302A>G
• NP_001269460.1:p.Gln1101Arg
• NP_001269461.1:p.Gln1101Arg
• NP_001334440.1:p.Gln1101Arg
• NP_056154.1:p.Gln1101Arg
• NP_852107.1:p.Gln1101Arg
• NC_000020.10:g.49507949T>C
• NM_015339.2:c.3302A>G

This HGVS expression did not pass validation

Protein change:

Q1101R

Links:

dbSNP: rs2122733075

NCBI 1000 Genomes Browser:

rs2122733075

Molecular consequence:

• NM_001282531.3:c.3302A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282532.2:c.3302A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001347511.2:c.3302A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_015339.5:c.3302A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_181442.4:c.3302A>G - missense variant - [Sequence Ontology: SO:0001583]