ClinVar

NM_001395333.1(MTCL1):c.2457C>T (p.His819=)

Gene:

MTCL1:microtubule crosslinking factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.22

Genomic location:

• Chr18: 8784489 (on Assembly GRCh38)
• Chr18: 8784487 (on Assembly GRCh37)

Preferred name:

NM_001395333.1(MTCL1):c.2457C>T (p.His819=)

HGVS:

• NC_000018.10:g.8784489C>T
• NM_001378205.1:c.2457C>T
• NM_001378206.1:c.2457C>T
• NM_001378207.1:c.2457C>T
• NM_001395220.1:c.1377C>T
• NM_001395333.1:c.2457C>TMANE SELECT
• NM_015210.4:c.1377C>T
• NP_001365134.1:p.His819=
• NP_001365135.1:p.His819=
• NP_001365136.1:p.His819=
• NP_001382149.1:p.His459=
• NP_001382262.1:p.His819=
• NP_056025.2:p.His459=
• NC_000018.9:g.8784487C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001378205.1:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378206.1:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378207.1:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001395220.1:c.1377C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001395333.1:c.2457C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015210.4:c.1377C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1