ClinVar

NM_020549.5(CHAT):c.1668C>T (p.Ser556=)

Gene:

CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

• Chr10: 49655128 (on Assembly GRCh38)
• Chr10: 50863174 (on Assembly GRCh37)

Preferred name:

NM_020549.5(CHAT):c.1668C>T (p.Ser556=)

HGVS:

• NC_000010.11:g.49655128C>T
• NG_011797.1:g.51034C>T
• NM_001142929.2:c.1314C>T
• NM_001142933.2:c.1422C>T
• NM_001142934.2:c.1314C>T
• NM_020549.5:c.1668C>TMANE SELECT
• NM_020984.4:c.1314C>T
• NM_020985.4:c.1314C>T
• NM_020986.4:c.1314C>T
• NP_001136401.2:p.Ser438=
• NP_001136405.2:p.Ser474=
• NP_001136406.2:p.Ser438=
• NP_065574.3:p.Ser556=
• NP_065574.4:p.Ser556=
• NP_066264.4:p.Ser438=
• NP_066265.4:p.Ser438=
• NP_066266.4:p.Ser438=
• NC_000010.10:g.50863174C>T
• NM_020549.4:c.1668C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs55702495

NCBI 1000 Genomes Browser:

rs55702495

Molecular consequence:

• NM_001142929.2:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142933.2:c.1422C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142934.2:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020549.5:c.1668C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020984.4:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020985.4:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020986.4:c.1314C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1