ClinVar

NM_001170629.2(CHD8):c.6937A>G (p.Thr2313Ala)

Genes:

LOC126861888:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21859227-21860426 [Gene]
CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21391591 (on Assembly GRCh38)
• Chr14: 21859750 (on Assembly GRCh37)

Preferred name:

NM_001170629.2(CHD8):c.6937A>G (p.Thr2313Ala)

HGVS:

• NC_000014.9:g.21391591T>C
• NG_021249.1:g.50708A>G
• NG_021249.2:g.69532A>G
• NG_086386.1:g.624T>C
• NM_001170629.2:c.6937A>GMANE SELECT
• NM_020920.4:c.6100A>G
• NP_001164100.1:p.Thr2313Ala
• NP_065971.2:p.Thr2034Ala
• NC_000014.8:g.21859750T>C

This HGVS expression did not pass validation

Protein change:

T2034A

Molecular consequence:

• NM_001170629.2:c.6937A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_020920.4:c.6100A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1