ClinVar

NM_005592.4(MUSK):c.12C>T (p.Leu4=)

Gene:

MUSK:muscle associated receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 110668916 (on Assembly GRCh38)
• Chr9: 113431196 (on Assembly GRCh37)

Preferred name:

NM_005592.4(MUSK):c.12C>T (p.Leu4=)

HGVS:

• NC_000009.12:g.110668916C>T
• NG_016016.2:g.5126C>T
• NM_001166280.2:c.12C>T
• NM_001166281.2:c.12C>T
• NM_005592.4:c.12C>TMANE SELECT
• NP_001159752.1:p.Leu4=
• NP_001159753.1:p.Leu4=
• NP_005583.1:p.Leu4=
• NC_000009.11:g.113431196C>T
• NG_016016.1:g.5146C>T
• NM_005592.3:c.12C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs374456998

NCBI 1000 Genomes Browser:

rs374456998

Molecular consequence:

• NM_001166280.2:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166281.2:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005592.4:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]