ClinVar

NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met)

Gene:

CHD7:chromodomain helicase DNA binding protein 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.2

Genomic location:

• Chr8: 60865152 (on Assembly GRCh38)
• Chr8: 61777711 (on Assembly GRCh37)

Preferred name:

NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met)

HGVS:

• NC_000008.11:g.60865152C>T
• NG_007009.1:g.191373C>T
• NM_001316690.1:c.2066C>T
• NM_017780.4:c.8213C>TMANE SELECT
• NP_001303619.1:p.Thr689Met
• NP_060250.2:p.Thr2738Met
• LRG_176t1:c.8213C>T
• LRG_176:g.191373C>T
• NC_000008.10:g.61777711C>T
• NM_017780.2:c.8213C>T
• NM_017780.3:c.8213C>T

This HGVS expression did not pass validation

Protein change:

T2738M

Links:

dbSNP: rs761409446

NCBI 1000 Genomes Browser:

rs761409446

Molecular consequence:

• NM_001316690.1:c.2066C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017780.4:c.8213C>T - missense variant - [Sequence Ontology: SO:0001583]