ClinVar

NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)

Gene:

CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21429308 (on Assembly GRCh38)
• Chr14: 21897467 (on Assembly GRCh37)

Preferred name:

NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)

HGVS:

• NC_000014.9:g.21429308G>A
• NG_021249.1:g.12991C>T
• NM_001170629.2:c.871C>TMANE SELECT
• NM_020920.4:c.34C>T
• NP_001164100.1:p.Leu291Phe
• NP_001164100.1:p.Leu291Phe
• NP_065971.2:p.Leu12Phe
• NC_000014.8:g.21897467G>A
• NM_001170629.1:c.871C>T

This HGVS expression did not pass validation

Protein change:

L12F

Links:

dbSNP: rs192989929

NCBI 1000 Genomes Browser:

rs192989929

Molecular consequence:

• NM_001170629.2:c.871C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020920.4:c.34C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1