ClinVar

NM_001170629.2(CHD8):c.6206C>T (p.Ser2069Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21393589 (on Assembly GRCh38)
• Chr14: 21861748 (on Assembly GRCh37)

Preferred name:

NM_001170629.2(CHD8):c.6206C>T (p.Ser2069Leu)

HGVS:

• NC_000014.9:g.21393589G>A
• NG_021249.1:g.48710C>T
• NM_001170629.2:c.6206C>TMANE SELECT
• NM_020920.4:c.5369C>T
• NP_001164100.1:p.Ser2069Leu
• NP_001164100.1:p.Ser2069Leu
• NP_065971.2:p.Ser1790Leu
• NC_000014.8:g.21861748G>A
• NM_001170629.1:c.6206C>T

This HGVS expression did not pass validation

Protein change:

S1790L

Links:

dbSNP: rs200858701

NCBI 1000 Genomes Browser:

rs200858701

Molecular consequence:

• NM_001170629.2:c.6206C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020920.4:c.5369C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1