ClinVar

NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)

Genes:

NEB:nebulin [Gene - OMIM - HGNC]
RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.3

Genomic location:

• Chr2: 151529225 (on Assembly GRCh38)
• Chr2: 152385739 (on Assembly GRCh37)

Preferred name:

NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)

HGVS:

• NC_000002.12:g.151529225G>A
• NG_009382.2:g.210263C>T
• NM_001164507.2:c.21720C>T
• NM_001164508.2:c.21720C>TMANE SELECT
• NM_001271208.2:c.21825C>T
• NM_004543.5:c.16617C>T
• NP_001157979.2:p.Tyr7240=
• NP_001157980.2:p.Tyr7240=
• NP_001258137.2:p.Tyr7275=
• NP_004534.3:p.Tyr5539=
• LRG_202t1:c.21825C>T
• LRG_202:g.210263C>T
• NC_000002.11:g.152385739G>A
• NM_001271208.1:c.21825C>T
• NM_004543.4:c.16617C>T
• p.Tyr7275Tyr

This HGVS expression did not pass validation

Links:

dbSNP: rs34718443

NCBI 1000 Genomes Browser:

rs34718443

Molecular consequence:

• NM_001164507.2:c.21720C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164508.2:c.21720C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001271208.2:c.21825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004543.5:c.16617C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2