ClinVar

NM_005592.4(MUSK):c.1338C>T (p.Ala446=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 110775941 (on Assembly GRCh38)
• Chr9: 113538221 (on Assembly GRCh37)

Preferred name:

NM_005592.4(MUSK):c.1338C>T (p.Ala446=)

HGVS:

• NC_000009.12:g.110775941C>T
• NG_016016.2:g.112151C>T
• NM_001166280.2:c.1104C>T
• NM_001166281.2:c.1074C>T
• NM_001369398.1:c.102C>T
• NM_005592.4:c.1338C>TMANE SELECT
• NP_001159752.1:p.Ala368=
• NP_001159753.1:p.Ala358=
• NP_001356327.1:p.Ala34=
• NP_005583.1:p.Ala446=
• NC_000009.11:g.113538221C>T
• NM_005592.3:c.1338C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001166280.2:c.1104C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001166281.2:c.1074C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369398.1:c.102C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005592.4:c.1338C>T - synonymous variant - [Sequence Ontology: SO:0001819]