ClinVar

NM_005909.5(MAP1B):c.4195C>T (p.Arg1399Cys)

Gene:

MAP1B:microtubule associated protein 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 72197550 (on Assembly GRCh38)
• Chr5: 71493377 (on Assembly GRCh37)

Preferred name:

NM_005909.5(MAP1B):c.4195C>T (p.Arg1399Cys)

HGVS:

• NC_000005.10:g.72197550C>T
• NM_001324255.2:c.3817C>T
• NM_005909.5:c.4195C>TMANE SELECT
• NP_001311184.1:p.Arg1273Cys
• NP_005900.2:p.Arg1399Cys
• NC_000005.9:g.71493377C>T

This HGVS expression did not pass validation

Protein change:

R1273C

Links:

dbSNP: rs776226079

NCBI 1000 Genomes Browser:

rs776226079

Molecular consequence:

• NM_001324255.2:c.3817C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005909.5:c.4195C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1