ClinVar

NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)

Gene:

SPTB:spectrin beta, erythrocytic [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.3

Genomic location:

• Chr14: 64774510 (on Assembly GRCh38)
• Chr14: 65241228 (on Assembly GRCh37)

Preferred name:

NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=)

Other names:

NM_000347.5:c.4860T>C

HGVS:

• NC_000014.9:g.64774510A>G
• NG_016202.2:g.110383T>C
• NM_001024858.4:c.4860T>C
• NM_001355436.2:c.4860T>CMANE SELECT
• NM_001355437.2:c.4860T>C
• NP_001020029.1:p.Ile1620=
• NP_001342365.1:p.Ile1620=
• NP_001342366.1:p.Ile1620=
• LRG_1130t1:c.4860T>C
• LRG_1130t2:c.4860T>C
• LRG_1130:g.110383T>C
• LRG_1130p1:p.Ile1620=
• LRG_1130p2:p.Ile1620=
• NC_000014.8:g.65241228A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs229592

NCBI 1000 Genomes Browser:

rs229592

Molecular consequence:

• NM_001024858.4:c.4860T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001355436.2:c.4860T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001355437.2:c.4860T>C - synonymous variant - [Sequence Ontology: SO:0001819]