ClinVar

NM_006790.3(MYOT):c.182A>C (p.His61Pro)

Genes:

PKD2L2-DT:PKD2L2 divergent transcript [Gene - HGNC]
MYOT:myotilin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 137870833 (on Assembly GRCh38)
• Chr5: 137206522 (on Assembly GRCh37)

Preferred name:

NM_006790.3(MYOT):c.182A>C (p.His61Pro)

HGVS:

• NC_000005.10:g.137870833A>C
• NG_008894.1:g.7978A>C
• NM_001135940.2:c.-197+308A>C
• NM_001300911.2:c.-120-44A>C
• NM_006790.3:c.182A>CMANE SELECT
• NP_006781.1:p.His61Pro
• NP_006781.1:p.His61Pro
• LRG_201t1:c.182A>C
• LRG_201:g.7978A>C
• LRG_201p1:p.His61Pro
• NC_000005.9:g.137206522A>C
• NM_006790.2:c.182A>C

This HGVS expression did not pass validation

Protein change:

H61P

Links:

dbSNP: rs372276337

NCBI 1000 Genomes Browser:

rs372276337

Molecular consequence:

• NM_001135940.2:c.-197+308A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001300911.2:c.-120-44A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_006790.3:c.182A>C - missense variant - [Sequence Ontology: SO:0001583]