ClinVar

NM_005592.4(MUSK):c.1026G>A (p.Ala342=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.3

Genomic location:

• Chr9: 110767925 (on Assembly GRCh38)
• Chr9: 113530205 (on Assembly GRCh37)

Preferred name:

NM_005592.4(MUSK):c.1026G>A (p.Ala342=)

HGVS:

• NC_000009.12:g.110767925G>A
• NG_016016.2:g.104135G>A
• NM_001166280.2:c.950+5717G>A
• NM_001166281.2:c.920+5717G>A
• NM_001369398.1:c.-211G>A
• NM_005592.4:c.1026G>AMANE SELECT
• NP_005583.1:p.Ala342=
• NC_000009.11:g.113530205G>A
• NG_016016.1:g.104155G>A
• NM_005592.3:c.1026G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs200434321

NCBI 1000 Genomes Browser:

rs200434321

Molecular consequence:

• NM_001369398.1:c.-211G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001166280.2:c.950+5717G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001166281.2:c.920+5717G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005592.4:c.1026G>A - synonymous variant - [Sequence Ontology: SO:0001819]